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PubMed1981

Serum ferritin levels in thalassemias and the effect of splenectomy.

Iron overload is a constant and the more important complication in thalassemia. Serum ferritin concentration accurately reflects body iron stores. A total of 245 thalassemic patients aged 12-55 years were examined, 71 having Hb H disease and 174 beta-thalassemia/Hb E disease. The patients received minimal or no blood transfusions. 73 patients with beta-thalassemia/Hb E were studied 1-28 years after splenectomy. The serum ferritin levels in both Hb H and beta-thalassemia/Hb E patients were higher than normal. They were higher in beta-thalassemia/Hb E than Hb H disease. Most striking was the significantly higher serum ferritin levels in splenectomized patients with beta-thalassemia/Hb E disease than in the nonsplenectomized ones. The observation is compatible with previous observations that splenectomy in thalassemia is associated with increased iron deposition and increased transferrin iron saturation. The further increase in iron overload after splenectomy in thalassemia should be borne in considering removal of this organ.

Adolescent↗
PubMed1993

Factors determining glucose tolerance in patients with thalassemia major.

To better understand the pathophysiology of glucose intolerance secondary to iron overload in patients with thalassemia major, we performed tolbutamide-modified frequently sampled iv glucose tolerance tests (FSIGTs) in 10 thalassemic patients (6 males and 4 females; 21.7 +/- 1.2 yr old; body mass index, 19.7 +/- 0.6 kg/m2) and 10 healthy controls (5 males and 5 females; 22.4 +/- 1.3 yr; body mass index, 20.6 +/- 0.5 kg/m2). Insulin secretion and action were quantified by application of the minimal model of glucose kinetics and the combined model of insulin and C-peptide kinetics to the FSIGT data. The insulin sensitivity index was significantly lower in thalassemia patients [72 +/- 12 min-1(nmol/mL)] compared to controls [158 +/- 21 min-1(nmol/mL); P = 0.0026]. The integrated insulin response during the FSIGT was significantly greater in thalassemia patients than in controls after tolbutamide injection (P = 0.042). The difference in insulin levels was apparently due to reduced hepatic insulin extraction in thalassemia (78 +/- 2% vs. 68 +/- 3%; P = 0.0251). Seven of the 10 thalassemia patients were studied prospectively at 6-month intervals for 6-12 months. Repeated measures analysis of variance indicated that across a 6-month interval, there was a decrease in the total integrated insulin response (P = 0.002), with no change in insulin sensitivity (P = 0.86). In conclusion, patients with thalassemia major have significant insulin resistance, which may be compensated for by an elevated circulating insulin level. The elevated insulin level in response to tolbutamide appears to be due to reduced hepatic extraction of insulin and not to an enhanced insulin secretory response. Over time, patients with thalassemia experience a reduction in their circulating insulin levels. Persistent insulin resistance along with a progressive reduction in circulating insulin levels may lead to glucose intolerance and diabetes mellitus, which have a high prevalence in patients with thalassemia major.

Adolescent↗
PubMed2006

Chelation therapy and bone metabolism markers in thalassemia major.

The aim of our study was to investigate the effects of subcutaneous desferrioxamine (DFX) and oral deferiprone (L1) therapy on bone metabolism markers in patients with thalassemia major. We studied 17 patients with thalassemia receiving long-term treatment with desferrioxamine, 20 patients receiving long-term treatment with deferiprone, and 15 healthy age-matched controls. The following investigations were performed: a) intact parathyroid hormone (PTH), 25-hydroxyvitamin D [25(OH)D], 1,25-dihydroxyvitamin D [1,25(OH)2D] as endocrine parameters; b) alkaline phosphatase (ALP), bone alkaline phosphatase (BALP), osteocalcin (OC); c) bone resorption biochemical markers in serum and urine pyridinium crosslinks: hydroxylysyl-pyridinoline (HP) and lysyl-pyridinoline (LP); d) serum levels of cytokines and growth factors: transforming growth factor-beta1 (TGFbeta1), insulin-like growth factor-I (IGF-I), interleukin-1beta (IL-1beta), interleukin-6 (IL-6), tumor necrosis factor-a (TNFalpha); e) serum levels of IGF binding protein-3 (IGFBP-3). No significant differences among all studied variables were found in patients with thalassemia treated with desferrioxamine or deferiprone. In contrast, significant differences were found between patients with thalassemia and the control group: intact PTH was significantly lower in patients with thalassemia than in the controls (p < 0.0005), and a significant increase in ALP and BALP (p < 0.0005), but not in OC, was found in the patient group. With regard to bone resorption and remodeling markers, the urinary excretion of pyridinium crosslinks was higher in patients with thalassemia for HP fraction (p < 0.0005) and LP fraction (p = 0.002), as well as TGFbeta (p = 0.001). In contrast, IGF-I and IGFBP-3 were reduced when compared with controls. In conclusion, the study of bone metabolism markers in adult patients with thalassemia reveals a complex behavior with an increase in bone resorption indexes. Bone formation did not appear to be impaired. In particular, TGFbeta1 was higher in patients with thalassemia receiving L1 treatment.

Adult↗
PubMed1981

Diagnosis of the beta 0 thalassemia trait at birth.

This study shows the results of in vitro globin chain synthesis analysis in 33 infants who had been previously evaluated for the presence of thalassemia in the second trimester of gestation and were restudied after the stage of hematological maturity. Four children with alpha-thalassemia-1, identified in a newborn screening, were also included. Normals and beta-thalassemia heterozygotes could be distinguished in the neonatal period by beta/alpha or beta/gamma ratios. However, as a considerable overlap of alpha-thalassemia-1 with normals and alpha-thalassemia-2 with beta-thalassemia heterozygotes were found, biosynthetic studies at birth seem to be inappropriate to make reliable diagnosis of hemoglobin chain deficiencies. There were no differences between hematological indices of normal and heterozygous beta-thalassemia newborns, while alpha-thalassemia-1 carriers showed a statistically significant difference from normals in mean MCV and MCH.

Female↗
PubMed1990

Beta-thalassemia in Yugoslavia.

This study concerned the evaluation of beta-thalassemia alleles in nearly 50 patients with beta-thalassemia major and in 130 -thalassemia heterozygotes using gene amplification and dot-blot hybridization with synthetic probes. Fourteen different mutations were observed; of these, three (IVS-I-110; IVS-I-6; IVS-I-1) account for some 75% of all beta-thalassemia alleles. Newly discovered variants, i.e. T----C in the initiation codon and AATAAA----AATGAA in the poly A site were observed in a few patients. The poly A mutation with classical beta-thalassemia alleles result in thalassemia intermedia. Hb Lepore is a rather common abnormality and combinations of this variant with beta-thalassemia often result in severe disease; a search for beta-thalassemia mutations among patients affected with this disease should include an analysis to detect this hemoglobin abnormality.

Alleles↗
PubMed2000

Lymphocyte subsets and specific T-cell immune response in thalassemia.

Infection is very common in thalassemia and is one of the major causes of death. To date, it is not quite clear why these patients are susceptible to infection. In this study, lymphocyte immunophenotyping for CD3(+) (T-cells), CD3(+)CD4(+) (T-helper/inducer cells), CD3(+)CD8(+) (T-suppressor/cytotoxic cells), CD3(-)CD19(+) (B-cells), and CD3(-)CD16/56(+) (natural killer cells) subsets and expression of the activation antigen CD69 on CD3(+)CD4(+) and CD3(+)CD8(+) T-cells were determined in the whole blood of thalassemia patients, using a three-color flow cytometric technique. Results showed that only splenectomized beta-thalassemia/hemoglobin (Hb) E patients displayed a marked increase in absolute number of all lymphocytes. In addition, splenectomized beta-thalassemia/Hb E showed a significantly lower percentage of CD3(+) cells, with a corresponding increase in CD19(+) cells. These differences, when compared with normal subjects and other thalassemia patients, may be attributed to splenectomy. alpha-thalassemia patients, on the other hand, showed no significant difference from the normal group. While lymphocyte subsets in splenectomized beta-thalassemia/Hb E patients showed an abnormal distribution, T-cell activation in these patients was not different from the activation seen in normal subjects. This implies that thalassemia patients, during the steady state of disease, appear to have normal T-lymphocyte function with only moderate abnormalities of T- and B-lymphocyte subsets.

Adult↗
PubMed2003

[Study on gene mutations of alpha-thalassemia in the South of China].

There is a high prevalence of thalassemia in the South of China. To explore the genotype of alpha-thalassemia as well as the distribution of alpha globin gene mutation in the South of China, 356 patients with heterozygote alpha(+) thalassemia, heterozygote alpha(0) or homozygote alpha(+) thalassemia and 78 patients with HbH were analyzed. The gene diagnosis methods including Gap-PCR, nested-PCR, PCR-RE, PCR-SSCP, 4P-ASPCR and DNA sequence analysis were used. The results showed that among 356 patients, 295 patients with --SEA/alphaalpha (82.87%), 1 patient with alphaalpha/alpha-alpha(3.7) (0.28%), 3 patients with alphaalpha/alpha-alpha(4.2) (0.84%), 3 patients with alphaalpha/alpha(CS)alpha (0.84%), 1 patient with alphaalpha/alphaalpha(QS) (0.28%) and 2 patients with alphaalpha/alpha(Westmead) alpha (0.56%) were found. The homozygote with -alpha(4.2) or -alpha(3.7) was not found. In 78 patients with HbH, 29 patients with --SEA/alphaalpha(-3.7) (37.2%), 20 patients with --SEA/alphaalpha(-4.2) (25.6%), 19 patients with --SEA/alphaalpha(CS) (24.3%), 2 patients with --SEA/alphaalpha(QS) (2.6%) were detected, and other remaiming 8 patients were needed to be defined. Among the non-defined 8 patients, the synonymous mutation with C-->G transversion (GCC-GCG) at codon 65 in the exon 2 of alpha 2-globin gene was detected in 2 unrelated HbH patients came from Guangxi province. Whether it correlated with the phenotype of HbH disease or it is only a single nucleotide polymorphism site (SNPs), should be confirmed in the future. In addition, a set of gene diagnosis methods based on PCR to screen deletion and non-deletion genotypes of alpha-thalassemia in Chinese was improved. A new method, 4P-ASPCR, to detect Hb CS and Hb QS was also developed. The method was verified to be more accurate, time-saving and economic. In conclusion, the genotypes of alpha-thalassemia in Chinese are very complicated, the genotypes of alpha-thalassemia in Chinese need to be further studied, the results of this research probably have practical significance for the gene diagnosis or antenatal diagnosis of alpha-thalassemia in the South of China.

Base Sequence↗
PubMedDate not supplied

Whole blood viscosity in beta thalassemia minor.

Patients with heterozygous beta-thalassemia minor have a decreased hematocrit (HCT). Since the HCT is a primary determinant of whole blood viscosity, the known reduction in HCT in beta-thalassemia minor should lead to a measurable reduction of whole blood viscosity. The influence of the relatively lower mean corpuscular volume and consequent higher red blood cell count and beta-thalassemia minor on whole blood viscosity using a microporous viscometer has not previously been the subject of investigation. Accordingly, the blood of a group of normal and beta-thalassemia minor subjects was examined with a microporous viscometer to elucidate further the relations between whole blood viscosity, HCT, and red blood cell count. The data show that for normal and beta-thalassemia minor subjects a significant positive correlation (r = 0.65, p less than 0.01) exists between HCT and whole blood viscosity. However, the slope of the regression of whole blood viscosity and HCT of beta-thalassemia minor subjects was significantly higher z = 3.14, p less than 0.001) than that of normals. Thus, for any given HCT their whole blood viscosity was higher than that of normals. Studies of the relation of red blood cell counts to whole blood viscosity indicate the higher whole blood viscosity at a given HCT was related to the increased red blood cell counts in beta-thalassemia minor subjects. Because of the opposing interactions of HCT and red blood cell counts, the mean whole blood viscosity of the group of beta-thalassemia minor subjects examined was not significantly lower than the normal whole blood viscosity.(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Viscosity↗
PubMed2004

Serum levels of lipids and lipoproteins in Syrian patients with beta-thalassemia major.

OBJECTIVE: Evaluation serum lipids, lipoprotein (a), apolipoprotein A1, apolipoprotein B and total antioxidant status (TAS) in syrian patients with beta-thalassemia major. METHODS: This study was carried out at Damascus University (Biochemical Laboratories of Medicine and Pharmacy Colleges), Syria between May 2002 and April 2003. This study included 30 patients with beta-thalassemia major, aged between 1.5 and 16-years. All patients had undergone regular blood transfusions and iron chelation therapy (through thalassemia center, Damascus, Syria); also 30 control subjects matched for age were studied. Serum total cholesterol, HDL-cholesterol, LDL-cholesterol, triglyceride, apolipoprotein A1 (apo A1), apolipoprotein B (apo B), lipoprotein (a) [Lp(a)] and total antioxidant status (TAS) were determined. Blood samples were withdrawn after at least 12-hours of patients fasting and before the blood transfusion. RESULTS: beta-thalassemia major patients had significantly lower total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C) and lower density lipoprotein (LDL-C) compared with control (P<0.0001, P<0.0001, P<0.003). While serum triglyceride (TG) and lipoprotein (a) [Lp(a)] levels were higher in b-thalassemia patients than in controls (P<0.0001). The reduction was significant (P<0.0001), in apolipoprotein A1 (apo A1) but not significant (P=0.537) in apo B serum levels, in patients compared to control subjects. Total antioxidant status (TAS) values were lower in beta-thalassemia major patients than in controls. CONCLUSION: The results might suggest that beta- thalassemia may represent an interesting metabolic model: anemia, an activated macrophage system and defective liver function seem interrelated to the final serum lipoprotein pattern. This suggests that antioxidants counteract lipid peroxidation processes and have a protective effect against oxidative damage of red cells of beta-thalassemia patients.

Adolescent↗
PubMed1992

Screening cord blood for hemoglobinopathies and thalassemia by HPLC.

We evaluated the use of an HPLC method for screening hemoglobins in cord blood. We studied the genotype frequencies of the structural hemoglobin variants HbS and HbC and the synthesis variants alpha- and beta(+)-thalassemia in babies born on Curaçao. During three months, 67.2% of all (748) newborns were screened: 122 (24.3%) had an abnormal hemoglobin pattern, of which 53 (43.4%) had a hemoglobinopathy (HbS or HbC), 64 (52.2%) had alpha-thalassemia (HbBarts greater than 0.5%, corresponding to heterozygous or homozygous alpha-thalassemia-2), and 5 (4.1%) had a hemoglobinopathy plus alpha-thalassemia. None of the newborns with heterozygous HbS and HbC had concomitant beta(+)-thalassemia. The population genotype frequency of heterozygous alpha-thalassemia-2 was calculated to be 30.7%. The data are in excellent agreement with those previously established for the adult population and those available from the black population in the United States and Jamaica. Based on the HPLC results, we estimate that 67.1% of newborns with heterozygous alpha-thalassemia-2 remain undetected. A coincidental finding was a relation between demonstrable alpha-thalassemia and short gestation. Because of its superior separating power and high sensitivity for quantifying relatively low percentages of hemoglobins in the presence of HbF0, the HPLC method was preeminently suitable for screening cord-blood samples.

Chromatography, High Pressure Liquid↗
PubMed1991

Quantitation of beta-thalassemia genes in Quebec immigrants of Mediterranean, southeast Asian, and Asian Indian origins.

Beta-thalassemia minor occurs at 5% frequency (on average) in populations migrant (since 1945) from Mediterranean countries to the province of Quebec. Individuals of Southeast Asian/Chinese and Asian Indian origin now living in the province also carry beta-thalassemia genes at similar frequencies. We characterized beta-thalassemia genes on 68 chromosomes (19 patients and 30 carriers identified by screening) to describe heterogeneity of beta-thalassemia alleles and to evaluate desirability of DNA tests in carrier screening. Thirteen different mutations account for 74% of the 68 beta-thalassemia chromosomes: seven occur on Mediterranean chromosomes (IVS I,nt110, Non 39, IVS I,nt6, IVS I,nt1G----A, IVS II,nt1, Fr8, IVS II,nt745) another three on SE Asian chromosomes (Fr 41-42, IVS II,nt654, HbE) and yet another three on Asian Indian chromosomes (IVS I,nt5, 619 bp del, IVS I,nt1G----T). Twenty-six percent (18/68) of the chromosomes carried none of 17 alleles accounting for 92-96% of beta-thalassemia molecular pathology in reference populations. The Italian beta-thalassemia chromosomes in the Quebec sample least resembled those in the corresponding source population. Until the spectrum of mutations in Quebec populations is fully defined, phenotype assay remains the most reliable and efficient method for beta-thalassemia carrier screening.

Asia, Southeastern↗
PubMed1988

Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.

The presence of various substitutions and deletions resulting in beta-thalassemia was studied in 19 black patients with homozygous beta-thalassemia and in numerous relatives; all patients were from Georgia, South Carolina, and Alabama. Methodology included gene mapping, amplification of genomic DNA with Taq polymerase, identification of known nucleotide substitutions or a single nucleotide deletion through hybridization with synthetic oligonucleotides, cloning and sequencing of a beta-globin gene, and sequencing of amplified genomic DNA. Of the 38 chromosomes tested, 21 (55%) had the A----G substitution at nt -29, eight (21%) had the C----T substitution at nt -88, three (8%) had the substitution at codon 24, while one each of the following abnormalities were also detected: frameshift at codon 6, a C----A mutation at nt 848 of the beta IVS-II (new), an A----T mutation at codon 61 (new), a deletion of 1.35 kilobases including the 5' end of beta, a Ggamma(Agamma delta beta)(0)-thalassemia, and one thalassemia determinant that remained unidentified. The C----A mutation at nt 848 of IVS-II occurred at a position 3 nucleotides 5' to the third exon, adjacent to the invariant AG dinucleotide of the acceptor sequence. The A----T mutation in codon 61 (AAG----TAG) resulted in the creation of a stop codon and thus in beta(0)-thalassemia. The various mutations occurred on chromosomes with different haplotypes; however, chromosomes with a specific mutation but with different haplotypes belonged to one specific framework, which suggested that crossovers were responsible for these different types. Hemoglobin (Hb) F levels were generally high (55% to 75% with 98.5% in one patient with beta(0)/beta(0)); a few patients with specific haplotypes and an alpha-thalassemia-2 heterozygosity had a lower Hb F level. The Ggamma in the Hb F was consistently high when the C----T mutation occurred at nt -158 to the Cap site of the Ggamma-globin gene; seven patients with +/+ at this site had an average Ggamma of 73.8%, eight patients with +/- had 64.8%, and one patient with -/- had 34.2%. Variations in hematologic values and in Hb F, Ggamma, and Hb A2 levels of relatives with a beta-thalassemia heterozygosity depended to some extent on the types of mutations or deletions and on the haplotypes of the chromosomes with the beta-thalassemia determinant.

Adolescent↗
PubMed1989

Laboratory diagnosis for thalassemia.

Thalassemia is one of the common genetic disorders worldwide. alpha-thalassemia, beta-thalassemia, Hb E and Hb Constant Spring are common mutations found in S E Asia. The diagnoses of thalassemia and some abnormal hemoglobin carriers are very crucial for the identification of a high risk couple who will need further investigation of prenatal diagnosis. Determination of any thalassemic disease such as Hb H disease, homozygous beta-thalassemia, beta-thalassemia/Hb E can be carried out easily from the clinical findings, changes in hematologic data and hemoglobin electrophoresis. But the diagnoses of thalassemia carriers are cumbersome and sometimes need very sophisticated techniques of in vitro protein synthesis and DNA analysis. In this paper we review the laboratory methods and strategies for the diagnosis of thalassemia and abnormal hemoglobin commonly found in S E Asia.

Clinical Laboratory Techniques↗
PubMed1987

Beta-thalassemia syndromes.

In summary, the beta-thalassemias are due to defects in or around the structural beta-globin gene. In some Indian patients, there is deletion of sequence at the 3' end of the beta-globin gene. Most commonly, single nucleotide mutations cause beta(+)- and beta(0) -thalassemia. More than 30 such mutations have been identified. Defects in the promoter region 5' to the gene as far 5' as -87 and closer to the gene at -27 and -28 in the ATA sequence can cause beta (+)-thalassemia. Single nucleotide changes in coding regions leading to termination or nonsense codons commonly cause beta (0)-thalassemia. In addition, beta(0)-thalassemia can be due to single nucleotide changes in the invariant GT at the 5' splice junction in IVS 1 and 2 and in the AG at the 3' end of IVS 2. Additionally, single nucleotide mutations can occur within IVS that result in both beta(+)- and beta(0)-thalassemia. New splice sites are usually the result of these single nucleotide mutations, and they lead to new, abnormal splicing patterns. In some instances, beta (+)-thalassemia results when a new splice signal created within IVS is still associated with some continued normal splicing as well as with abnormal splicing. The abnormal splicing leads to abnormal mRNA, while the normal splicing leads to some normal mRNA and the beta (+)-pheno-single In other cases, such as with the defect as position 705 of IVS 2, the single nucleotide change within the IVS allows only abnormal mRNA splicing, and it results in beta (0)-thalassemia.(ABSTRACT TRUNCATED AT 250 WORDS)

Base Sequence↗
PubMed1982

Studies of left-ventricular function in anemia due to beta-thalassemia.

Left-ventricular (LV) function was studied in 23 patients with anemia due to beta-thalassemia, of whom seven had thalassemia intermedia and the remainder thalassemia major. Two-thirds of the patients wih thalassemia intermedia and almost all the patients with thalassemia major were in clinical congestive heart failure. Despite this, resting measurements of ventricular size and systolic ventricular function were normal, indicating high-output cardiac failure. However, effort testing showed a flat response or decrease in the LV shortening fraction in patients with thalassemia major, and serial studies showed a decrease in the shortening fraction over a 4-yr period in some patients. LV diastolic function was studied by calculating peak LV filling rate and the pattern of LV filling in early diastole. Three patient with thalassemia major showed a pattern indicating abnormal LV distension. Since LV end-diastolic dimension was increased, volume overload was present in all patients. The results indicate that the following factors contribute to the genesis of cardiac failure in beta-thalassemia: 1) diminished response of systolic ventricular performance to exercise and later at rest; 2) ventricular volume overload; and 3) abnormal ventricular distension in diastole. Although the ventricular filling suggests abnormal LV compliance, the effect of right-ventricular volume overload or a pericardial factor cannot be excluded.

Adolescent↗
PubMed1977

Detection of sickle alpha- or beta0-thalassemia by studies of globin biosynthesis.

Globin synthesis studies are useful in the analysis of thalassemia syndromes. We have applied globin synthesis and free alpha-chain pool studies of peripheral blood to characterize hematologic disorders where alpha- or beta-thalassemia was present in combination with HbS or HbC. In 60 non-thalassemic controls, the beta/alpha specific activity ratio was 1.01 +/- 0.06 (SD). In three patients with HbS-beta0-thalassemia, the (betas + gamma)/alpha ratios were 0.48-.067. In four patients with HbSS-alpha-thalassemia, the (BETAS/ALPHA RATIO was 1.26 +/- 0.18 (1.13-1.53). The radioactive free alpha-chain pool in three patients with HbS-beta0-thalassemia was elevated (35.1%-53.0%), while three patients with HbSS-alpha-thalassemia had decreased free radioactive alpha-chain pools (3.2%-6.4%); both were significantly different from the mean (15.1% +/- 2.6%) of the 17 iron-sufficient controls. Simultaneous studies of the fraction of newly synthesized alpha chain contained in the free alpha-chain pool in peripheral blood and bone marrow demonstrated that this fraction was larger in peripheral blood than in marrow, and that the differences between thalassemia patients and controls previously found in bone marrow using these methods were also present in peripheral blood. The results indicate that even when family studies are not possible, patients with HbS in combination with alpha- or beta0-thalassemia can be differentiated from those with homozygous sickle cell disease by globin synthesis and free alpha-chain pool studies using peripheral blood.

Child↗
PubMedDate not supplied

[Assessment of iron status in individuals with heterozygotic beta-thalassemia].

Idiopathic haemochromatosis and thalassemia are the most frequent genetic disorders associated to iron overload. In major and intermedia thalassemia patients, the iron overload is a well defined situation; however in minor thalassemia, frequently an asymptomatic disease, there is no agreement about the situation of iron storage. The best index for evaluation of the iron state is serum ferritin, because there is a correlation between its value and iron hepatic concentration. PURPOSE--Iron state was studied in a homogenous group of Brazilians with beta-thalassemia trait and the correlation between iron state and anemia severity was verified. METHODS--35 adult subjects with beta-thalassemia trait and 35 normal subjects (20 women and 15 men, aged between 20 to 54 years/group) were studied for serum iron, TIBC, serum ferritin and hemoglobin. RESULTS--The results demonstrated that in the male group of beta-thalassemia trait subjects the mean value of serum ferritin was 253.69ng/mL and in the male control group it was 107.79ng/mL (U calc < U crit). There was no statistic difference between any studied variable in female groups. There was no correlation between the iron state and the hemoglobin levels in beta-thalassemia trait subjects. CONCLUSION--The possibility of iron overload in males with beta-thalassemia trait and the necessity to follow-up those subjects with high levels of serum ferritin is suggested.

Adult↗
PubMed1996

The changing profile of homozygous beta-thalassemia: demography, ethnicity, and age distribution of current North American patients and changes in two decades.

BACKGROUND: The age of patients with homozygous beta-thalassemia is increasing because of better treatment and decreased births. A countering influence is immigration of ethnic groups with a high prevalence of thalassemia. METHODS: a questionnaire sent to 48 North American centers requested information about current patients with homozygous beta-thalassemia: age, clinical severity, and ethnicity. An 83% response was obtained. Twelve reference hospitals that participated in similar surveys in 1972 and 1984 were included. RESULTS: Five hundred eighteen patients with homozygous beta-thalassemia represent most North American patients. Four hundred forty-three (86%) of these had transfusion-dependent thalassemia major (TM); 75 (14%) had thalassemia intermedia (TI). Sixty-two percent were of Greek and Italian ancestry. There were approximately equal numbers of patients with TM in 5-year intervals between 0 and 25 years of age. Thereafter, the numbers of patients fell sharply. The mean age (+/- SD) of the patients with TM was 16.1 +/- 9.2 years. Striking differences were seen in Italian and Greek patients compared with those of other ancestries. Sixty-six percent of the 271 Italian and Greek patients with TM were older than 16 years of age, whereas 77% of the 172 patients of other ethnic groups with TM were younger than 15 years of age. The mean age of the 75 patients with TI was greater than that of the patients with TM. Seventy-three percent of African-American patients had TI, compared with 0% of Southeastern Asian patients. Comparisons of patients with TM from the 12 reference hospitals for two decades show increasing mean ages of TM patients (1973, 11.4 +/- 6.7 years; 1985, 14/2 +/- 7.3 years; and 1993, 16.1 +/- 9.2 years). CONCLUSIONS: There are probably only 750 to 1000 patients with homozygous beta-thalassemia in North America. Only about 15 to 20 new cases are diagnosed each year. The increasing mean age and age distribution indicate that modern therapies are effective, but immigration of non-Mediterranean ethnic groups with thalassemia has resulted in more, younger patients. TM is increasingly becoming a disease of young adults.

Adolescent↗