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PubMed1988

Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA.

We have delineated the molecular lesions causing beta-thalassemia in Spain, a country that has witnessed the passage of different Mediterranean populations over the centuries, in order to evaluate the extent of heterogeneity of these mutations and to make possible simplified prenatal diagnosis of the disorder in that country. The use of the polymerase chain-reaction (PCR) technique to preferentially amplify beta-globin DNA sequences that contain the most frequent beta-thalassemia mutations in Mediterraneans enabled us to rapidly analyze 58 beta-thalassemia alleles in a dot-blot format either by hybridization with allele-specific radiolabeled oligonucleotide probes or by direct sequence analysis of the amplification product. The Spanish population carries seven different beta-thalassemia mutations; the nonsense codon 39 is predominant (64%), whereas the IVS1 position 110 mutation, the most common cause of beta-thalassemia in the eastern part of the Mediterranean basin, is underrepresented (8.5%). The IVS1 mutation at position 6 accounts for 15% of the defects and leads to a more severe form of beta+-thalassemia than originally described in most of the patients we studied. In this study, we demonstrate further the usefulness of the dot-blot hybridization of PCR-amplified genomic DNA in both rapid population surveys and prenatal diagnosis of beta-thalassemia.

Base Sequence↗

PubMedDate not supplied

[Epidemiologic research for thalassemia and hemoglobinopathy traits in the territory of a local health unit in Liguria].

The authors investigated the incidence of thalassemia traits and hemoglobinopathies in western Liguria, where up to 70% of people comes from other italian regions, particularly from the South. The authors screened 442 primary school pupils in Albenga and Andora (Savona). Laboratory investigations permitted to detect 19 thalassemia trait carrier subjects (4.30% of the total examined): 12 of them were diagnosed heterozygous for beta-thalassemia, 6 for alpha-thalassemia, and 1 for Hb S. Authors would underline that more than half of the screening positive subjects resulted carrier of beta-thalassemia or Hb S trait, both potentially able to give origin to severe diseases: homozygous beta-thalassemia, sickle cell anemia, and beta-thalassemia/Hb S double heterozygosity.

Anemia, Sickle Cell↗

PubMed1981

Diagnostic significance of hemoglobin F and A2 levels in homo- and heterozygous beta-thalassemia during infancy.

For diagnosis of beta- and beta delta-thalassemia in the first year of life the physiological changes of hemoglobin F and A2 levels occurring in this age group have to be considered. The analysis of the hemoglobin pattern in 29 cases of thalassemia major and 285 cases of thalassemia trait, 47 of them aged less than one year, showed that all cases of homozygous beta-thalassemia aged less than one year could be diagnosed by definitely increased hemoglobin F levels exceeding the normal range for the appropriate age. In children older than ten years and in adults with heterozygous beta-thalassemia, the diagnosis could be made accurately by increased hemoglobin A2 levels in 97 percent. In children between one and ten years only 77 percent and in infants aged less than one year only 55 percent of the cases showed increases hemoglobin A2 levels. In contrast to adults, the hemoglobin F level seems to be helpful for the diagnosis of thalassemia trait. The younger the patient the more is the hemoglobin F level increased above the normal range for the appropriate age. It appears impossible to differentiate between beta- and beta delta-thalassemia trait when hemoglobin A2 is normal or low.

Age Factors↗

PubMed1984

Effects of thalassemia and microcytosis on the hematologic and vasoocclusive severity of sickle cell anemia.

The characteristic clinical heterogeneity of sickle cell anemia (HbSS) may be, in part, a result of its interactions with alpha-thalassemia. Although alpha-thalassemia clearly affects some hematologic features of HbSS, its role in modulating the vasoocclusive severity of disease is not clear. To further explore this relationship, we examined the incidence of painful episodes, acute chest syndrome, aseptic bone necrosis, and leg ulcers in 3 patient groups with sickle cell disease: (1) 2,147 patients over age 2 yr, stratified according to mean corpuscular volume (MCV); (2) 183 patients selected on the basis of microcytosis and elevated HbA2, on whom globin biosynthesis studies were done; and (3) 125 patients who had alpha-globin genotype assigned by restriction endonuclease gene mapping. When patients were stratified by MCV, there was a reciprocal relationship between HbA2 levels and MCV, reflecting the presence of patients with beta o and alpha-thalassemia in the low MCV groups. The erythrocyte indices and HbA2 levels in patients classified as HbSS-alpha-thalassemia, by either globin synthesis studies or gene mapping, were very similar to those previously reported by others. Neither microcytosis, beta o, or alpha-thalassemia appeared to provide any clear protection from the vasoocclusive complication evaluated, and the prevalence of aseptic necrosis was increased in patients with microcytosis over age 20 yr and in groups with alpha-thalassemia. The effects of a reduced MCV and mean corpuscular hemoglobin concentration (MCHC), of possible benefit by themselves, when accompanied by a reduction in hemolysis and rise in hemoglobin concentration, as in HbSS-alpha-thalassemia, may cause sufficient rise in blood viscosity in critical vascular beds to impair blood flow and negate any amelioration of vasoocclusive complications in HbSS.

Adolescent↗

PubMed1981

Low output hemoglobins which produce the phenotype of thalassemia.

Variant hemoglobins such as Hb Lepore and Hb Constant Spring, because of their low synthetic rates, produce the phenotypes of beta and alpha-thalassemia respectively. A new hemoglobin variant, Hb Indianapolis, produced the phenotype of severe beta-thalassemia due to its extreme lability. Hb Indianapolis was so unstable that it no detectable protein associated with it could be isolated from the hemolysates of affected individuals. Structural analysis, using only radioactivity, revealed a cysteine to arginine substitution at beta 112 (G14). The extremely rapid precipitation and catabolism of beta Indianapolis and the resulting excess of alpha-chains, both causing membrane damage, may be responsible for the severe clinical manifestations associated with this variant. Another new hemoglobin variant, Hb Vicksburg, was found to produce the phenotype of thalassemia intermedia in the proband who was doubly heterozygous for this variant and beta 0-thalassemia. Structural analysis of Hb Vicksburg demonstrated a deletion of leucine at beta 75 (E19). Hb Vicksburg should have comprised the major portion of the hemolysate in the proband because of the presence of beta 0-thalassemia on the trans chromosome, but comprised instead only 7.6%. Thus, Hb Vicksburg was synthesized at a rate lower than that expected on the basis of gene dosage. Deletion of beta 75, for a number of reasons, would not be expected to lead to diminished synthesis of the variant. The most plausible explanation for the low output of Hb Vicksburg is that a mutation for beta +-thalassemia is present in cis to the structural mutation. Hb Indianapolis and Hb Vicksburg, therefore, are two new hemoglobin variants which produce the phenotype of beta-thalassemia by widely different mechanisms.

Child↗

PubMed1981

Coincidental nontransfusional iron overload and thalassemia minor: association with HLA-linked hemochromatosis.

A pedigree was studied in which five individuals with beta-thalassemia minor were found to have nontransfusional hemochromatosis. Three were children under the age of 10 and two were young male adults, ages 28 and 33. A 5-yr-old child without evidence of thalassemia also had hemochromatosis. Since hemochromatosis is transmitted as an HLA-linked autosomal recessive disorder, HLA haplotypes serve as markers of hemochromatosis alleles. In this pedigree, five identifiable HLA haplotypes were associated with hemochromatosis alleles. Only individuals with two hemochromatosis alleles (homozygosity) had heavy iron loads, whether beta-thalassemia minor was present or not. Individuals with beta-thalassemia minor but without a hemochromatosis allele had normal transferrin saturation. A 65-yr-old man with beta-thalassemia minor and a single hemochromatosis allele had only a minimally elevated transferrin saturation (54%). The presence of beta-thalassemia minor did not appear to accentuate the degree of iron loading expected in individuals homozygous or heterozygous for hemochromatosis alleles. Our findings suggest that nontransfusional hemochromatosis found in association with beta-thalassemia minor is due primarily to homozygosity for hemochromatosis.

Adolescent↗

PubMed1977

beta-O-thalassemia from Algeria: genetic and molecular characterization.

beta-Thalassemia is a major public health problem in Algeria. During a survey, a family including two cases of betaO-thalassemia was studied. The family study indicated that two of the affected siblings had homozygous beta-thalassemia; there were also both normal and heterozygous siblings, and both parents had beta-thalassemia trait. In the two cases of betaO-thalassemia there was no hemoglobin A in the peripheral blood, and no beta-globin chain synthesis in whole cell incubations. Hybridization of purified complementary DNA specific for alpha- and beta-globin messenger RNAs demonstrated less than 1% mRNAbeta relative to mRNAalpha in circulating reticulocytes, and for one case in total RNA from bone marrow. There is no apparent beta-globin gene deletion as determined by hybridization in globin cDNAbeta sequence excess. Therefore the Algerian cases studied are similar in molecular pathology to some Southern Italian and Asian cases described previously, and differ from other Italian and Chinese betaO-thalassemias, in which hybridizable mRNAbeta has been demonstrated, and from deltabetaO-thalassemia, which is caused by a gene deletion.

Algeria↗

PubMed1998

Oxidative modification of low-density lipoprotein and atherogenetic risk in beta-thalassemia.

We investigated the oxidative state of low-density lipoprotein (LDL) in patients with beta-thalassemia to determine whether there was an association with atherogenesis. Conjugated diene lipid hydroperoxides (CD) and the level of major lipid antioxidants in LDL, as well as modified LDL protein, were evaluated in 35 beta-thalassemia intermedia patients, aged 10 to 60, and compared with age-matched healthy controls. Vitamin E and beta-carotene levels in LDL from patients were 45% and 24% of that observed in healthy controls, respectively. In contrast, the mean amount of LDL-CD was threefold higher and lysil residues of apo B-100 were decreased by 17%. LDL-CD in thalassemia patients showed a strong inverse correlation with LDL vitamin E (r = -0.784; P <.0001), while a negative trend was observed with LDL-beta-carotene (r = -0.443; P =.149). In the plasma of thalassemia patients, malondialdehyde (MDA), a byproduct of lipid peroxidation, was increased by about twofold, while vitamin E showed a 52% decrease versus healthy controls. LDL-CD were inversely correlated with plasma vitamin E (r = -0.659; P <.0001) and correlated positively with plasma MDA (r = 0.621; P <. 0001). Plasma ferritin was positively correlated with LDL-CD (r = 0.583; P =.0002). No correlation was found between the age of the patients and plasma MDA or LDL-CD. The LDL from thalassemia patients was cytotoxic to cultured human fibroblasts and cytotoxicity increased with the content of lipid peroxidation products. Clinical evidence of mild to severe vascular complications in nine of the patients was then matched with levels of LDL-CD, which were 36% to 118% higher than the mean levels of the patients. Our results could account for the incidence of atherogenic vascular diseases often reported in beta-thalassemia patients. We suggest that the level of plasma MDA in beta-thalassemia patients may represent a sensitive index of the oxidative status of LDL in vivo and of its potential atherogenicity.

Adolescent↗

PubMed1998

High incidence of the CD8/9 (+G) beta 0-thalassemia mutation in Spain.

BACKGROUND AND OBJECTIVE: In Spain, as in other Mediterranean regions the most common beta-thalassemia mutations are due to point mutations in gene regions that are critical for production of mRNA, such as [IVS-I-nt1 (G-->A), IVS-I-nt6 (T-->C), IVS-I-nt110 (G-->A)] which interrupt normal RNA processing or nonsense mutations [CD39 (C-->T)] which interrupt the translation of mRNA. The frameshift mutation CD8/9 (+G) is a very common allele in Asian Indians but is rare in the Mediterranean regions in which isolated alleles with this mutation have been found in Israel, Greece, Portugal and Turkey. DESIGN AND METHODS: We performed a molecular analysis of 175 chromosomes corresponding to 233 beta-thalassemia patients (221 heterozygous, 10 homozygous and 2 compound heterozygous) who belong to 169 Spanish families. The study of beta-thalassemia was made by PCR-ARMS, the alpha genes by Southern blot, the phenotype of Hb Lepore by enzymatic amplification and the presence of -158 gamma G C-->T mutation by PCR and digestion with the restriction enzyme XmnL. RESULTS: Twenty of these 233 patients showed the beta-thalassemia mutation CD8/9 (+G) (17 were heterozygous, 2 homozygous and in one patient the mutation was associated with a structural variant Hb Lepore Boston). INTERPRETATION AND CONCLUSIONS: These data reveal the heterogeneity of beta-thalassemia in Spain and the relatively high frequency (8.6%) of the frameshift mutation CD8/9 (+G). It is surprising that homozygotes for beta zero-thalassemia due to this mutation with very high Hb F values (around 90%) present a phenotype of intermediate thalassemia.

CD8 Antigens↗

PubMedDate not supplied

Thalassemia and pregnancy.

Thalassemia syndromes, hemoglobinopathies characterized by anemia secondary to genetic defects of hemoglobin, are the most common of the genetic blood disorders. The prevalence and severity of the thalassemia syndromes are population dependent, with the type of thalassemia seen dependent on racial background. The health care provider must recognize the woman at highest risk for thalassemia and initiate appropriate screening and diagnostic testing. The specific thalassemia dictates the potential maternal, fetal, and neonatal consequences of anemia, red blood cell dysfunction, and systemic oxygenation issues. This article discusses normal globin chain synthesis, diagnostic testing for thalassemia, plan of management, and implications for the woman and fetus.

Chelation Therapy↗

PubMed2006

Alloimmunization among patients with transfusion-dependent thalassemia in Taiwan.

The development of erythrocyte alloantibodies complicates transfusion therapy in patients with thalassemia. However, no data are available on the frequency of erythrocyte alloimmunization in patients with transfusion-dependent thalassemia in Taiwan. We analysed the clinical and transfusion records of 30 individuals (15 females and 15 males; mean age, 20 years; range, 4-31 years) with thalassemia who had regular transfusions for periods ranging from 0.5 to 20 years. Of the 30 patients, 28 who had beta-thalassemia major and two who had Hb H disease (alpha thalassemia), 11 (37%) were found to carry alloantibodies. All alloantibodies were clinically significant specificities, including four cases of anti-E, two of anti-E + c, two of anti-'Mi(a)', one of anti-'Mi(a)' + E, one of anti-D and one of anti-S. Alloimmunization to erythrocyte antigens is a frequent complication in transfusion-dependent thalassemia.

Adolescent↗

PubMedDate not supplied

Rare thalassemic syndrome caused by interaction of Hb Questembert (alpha1 codon 131, TCT>CCT, Ser>Pro) with an alpha-thalassemia-2 deletion: implications for diagnosis and management.

Abnormal globin chain biosynthesis may result in deficient quantity (thalassemia) or structural variation (abnormal hemoglobins) and traditionally, they represent two phenotypically distinct groups of disorders. However, the phenotypic expression of unstable hemoglobin variants often combine features of thalassemia together with variable peripheral hemolysis. To achieve definitive diagnosis in a child presenting with hemolytic anemia along with features associated with thalassemia intermedia, we evaluated clinical, hematological, biochemical, globin biosynthetic and molecular data. Definitive diagnosis was achieved by DNA analysis which characterized the proband to be a compound heterozygote for a common alpha-thalassemia-2 deletion (3.7 kb) and Hb Questembert (alpha131[H14] Ser>Pro) caused by a C>T mutation in codon 131 of the alpha1 globin gene in trans. The phenotype of thalassemia intermedia with marked dyserythropoiesis, found in patients inheriting alpha-thalassemia mutations along with unstable alpha-globin variants (i.e., alpha-thalassemic hemoglobinopathies), represents a distinct type of thalassemic syndrome. The proband in this study additionally had variable peripheral hemolysis, presumably related to characteristics of the unstable Hb Questembert. There is minimal experience for the management of such atypical cases and this case illustrates that it is probably insufficient to monitor clinical status in patients with such hemoglobinopathies based only on the levels of hemoglobin.

Child, Preschool↗

PubMed1998

Prenatal strategies for reducing severe thalassemia in pregnancy.

OBJECTIVE: To describe the prenatal strategy in reducing new cases of severe thalassemia at Maharaj Nakorn Chiang Mai Hospital. The study design involved a prospective descriptive analysis set in Maharaj Nakorn Chiang Mai Hospital, Chiang Mai University. SUBJECTS: Pregnant women attending antenatal clinic. METHODS: The strategy included: (1) carrier identification by retrospective (history review) and prospective screening program; (2) the couples at risk were counseled and offered cordocentesis; (3) analysis of fetal blood with high performance liquid chromatography (HPLC) or electrophoresis; and (4) counseling for termination of pregnancy in case of affected fetus. The prospective screening consisted of testing for a carrier by a simple erythrocyte osmotic fragility test (EOFT) in women with no risk and testing the husbands of the women with abnormal tests. A pregnancy in which both of the couple were carriers was considered a risk. RESULTS: Cordocentesis was performed in 554 pregnancies at risk, 252 and 302 from retrospective and prospective screening, respectively. Sixty of 252 of the first group had severe thalassemia. In the prospective screening program of 12 680 women, 459 risk couples were identified, 302 pregnancies underwent cordocentesis and 53 (17.5%) had severe thalassemia. This strategy enabled us to identify 113 cases of severe thalassemia (Hb Bart's; 60, beta-thal entities; 53) from 554 cases at risk. CONCLUSION: The strategy proves valuable in the control of severe thalassemia. This extensive experience suggests the strategy be considered an effective way in the control of severe thalassemia in high prevalence areas.

Carrier State↗

PubMed2000

Molecular prenatal diagnosis of thalassemia in Taiwan.

OBJECTIVE: Thalassemia is a highly prevalent genetic disorder in Taiwan. The major goal of this study was to present a feasible protocol for the prenatal diagnosis of thalassemia. METHOD: Prenatal investigation of thalassemia was performed on 57 at-risk cases at the Mackay Memorial Hospital, Taipei, Taiwan. We developed a method using polymerase chain reaction (PCR) and high-throughput DNA sequencing to detect mutations. All diagnoses were confirmed after delivery. RESULT: Prenatal testing revealed 16 normal fetuses, 24 alpha-thal-1 carriers, eight Hb Bart's hydrops fetalis, seven beta-thalassemia minor, and two beta-thalassemia major fetuses. No false-positive or false-negative cases were found during the postnatal follow-ups. CONCLUSION: The results of this study indicate that prenatal diagnosis of thalassemia syndromes in Taiwan is successful with the use of a rapid and accurate molecular method.

Amniocentesis↗

PubMedDate not supplied

Heterozygous beta-thalassemia: not infrequent in Mexico.

BACKGROUND: The prevalence of beta-thalassemia in Mexico is not known in detail. METHODS: Data of studies investigating abnormal hemoglobins between September 1987 and November 2000 were analyzed; in addition, data of red-blood-cell indices and clinical features were analyzed in patients identified as carriers of beta-thalassemia. RESULTS: In 1,639 prospective studies looking for abnormal hemoglobins, 429 disclosed some abnormality; of these, 319 cases displayed abnormally high levels of hemoglobin A2, thus consistent with the diagnosis of beta-thalassemia. This hemoglobin abnormality represented 74.2% of all abnormalities, both quantitative and qualitative, of the molecule of hemoglobin. There were 317 heterozygotes and only two homozygotes. We have previously shown that the most frequent cause of anemia as the iatrotropic condition in Mexican mestizos is iron deficiency. We found that iron deficiency is 11.5 times more frequent than beta-thalassemia and that the latter is 1.3 times more frequent than macrocytic/megaloblastic anemia. CONCLUSIONS: beta-thalassemia should not be considered as infrequent in Mexico, and individuals with red blood cell microcytosis and/or hypochromia with or without anemia should be screened for thalassemia.

Anemia, Hypochromic↗

PubMed2026

Enhancing Hemoglobin Bart's hydrops fetalis syndrome prevention: a single-tube multiplex real-time PCR assay for the comprehensive detection of four significant α0-thalassemia deletions (--SEA, --THAI, --CR, and --SA) found in Thailand.

BACKGROUND: Hemoglobin (Hb) Bart's hydrops fetalis is a major public health concern in Southeast Asia, particularly in Thailand. Current screening strategies target the two most common α0 -thalassemia deletions (--SEA and --THAI). METHOD: In this study, we developed a single-tube multiplex real-time PCR assay for the simultaneous detection of four clinically relevant α0-thalassemia deletions (--SEA, --THAI, --CR, and --SA). The assay was validated using 538 clinical samples with diverse thalassemia genotypes and compared against conventional gap-PCR as the reference method. Analytical performance, including sensitivity, specificity, and limit of detection (LOD), was evaluated. In addition, clinical utility was assessed in 22 prenatal diagnosis cases at risk of Hb Bart's hydrops fetalis. RESULTS: The study cohort demonstrated substantial genetic heterogeneity, comprising 43 distinct genotypes. The developed assay achieved 100% sensitivity and specificity for all targeted deletions, with complete concordance with gap-PCR results. No cross-reactivity was observed with α+-thalassemia. The assay demonstrated a high analytical sensitivity with a LOD of 9.76 × 10-3 ng per reaction. Whereas in prenatal diagnosis, all 22 fetal genotypes were accurately identified, including five cases of homozygous --SEA and one rare compound heterozygous --SEA/--CR fetus. CONCLUSIONS: This study presents a rapid, accurate, and cost-effective multiplex real-time PCR assay capable of detecting both common and rare α0-thalassemia deletions in a single reaction. The assay demonstrates strong potential for implementation in routine clinical laboratories and large-scale population screening, contributing to improved prevention and control of severe thalassemia syndromes in high-prevalence regions.

Humans↗

PubMed2024

Clinical efficacy of thalidomide for various genotypes of beta thalassemia.

OBJECTIVE: The objective of this study was to investigate the therapeutic efficacy of thalidomide across various genotype presentations of β-thalassemia so as to facilitate the early screening of thalidomide-sensitive thalassemia cases and to understand the impact of iron overload on thalidomide. METHODS: From our initial sample of 52 patients, we observed 48 patients with β-thalassemia for two years after administration of thalidomide. This cohort included 34 patients with transfusion-dependent thalassemia (TDT) and 14 patients with non-transfusion-dependent thalassemia (NTDT). We recorded the values of hemoglobin (Hb), fetal hemoglobin (HbF), and serum ferritin (SF) in the baseline period and at 1, 3, 6, 12, 18, and 24 months after enrollment, as well as the pre- and post-treatment blood transfusion volume in all 48 cases. According to the increase in Hb levels from baseline during the 6-month observation period, the response to thalidomide was divided into four levels: main response (MaR), minor response (MiR), slow response (SLR), and no response (NR). A decrease in serum ferritin levels compared to baseline was considered alleviation of iron overload. We calculated the overall response rate (ORR) as follows: ORR = MaR + MiR + SLR/number of observed cases. RESULTS: The ORR was 91.7% (44/48 cases), and 72.9% showed MaR (35/48 cases). Among the 34 patients with TDT, 21 patients (61.8%) were free of blood transfusion, and the remaining 13 patients still required blood transfusion, but their total blood transfusion volume reduced by 31.3% when compared to the baseline. We found a total of 33 cases with 10 combinations of advantageous genes, which included 5 cases with βCD41-42/βCD17 and 6 cases with βCD41-42/β-28. Based on the treatment outcomes among the 48 cases in the observation group, there were 33 cases in the MaR group and 15 cases in the SLR/NR group. There was a difference in HbF between the two groups at baseline (P = 0.041). There were significant differences between the two groups in Hb and HbF at the time points of 6 and 12 months, respectively (P < 0.001). Compared to the baseline measurement, there was a significant decrease in the level of SF at months 12 and 24 (P < 0.001). CONCLUSION: In this study, we identified 10 β-thalassemia gene combinations that were sensitive to thalidomide. These gene combinations can be used for initial screening and to predict the therapeutic effect of thalidomide in clinical practice. We examined the therapeutic response to thalidomide and found that the administration of thalidomide in combination with standardized iron removal was more beneficial in reducing iron overload.

Humans↗

PubMed1999

Preventation of thalassemia in Australia.

Screening for thalassemia and other hemoglobinopathies in the major maternity hospitals in Melbourne, Australia has shown that 6% of the patient population carries a clinically significant genetic abnormality. The most common of these are beta-thalassemia (3%). HbS (1.8%), HbE (0.5%) and alpha0 thalassemia (0.4%). Approximately 60 prenatal diagnoses for the clinically significant combinations of these abnormal genes are performed annually in the 2 major centers of Melbourne and Sydney. The majority of these prenatal diagnoses are for beta-thalassemia major (65%). whilst 11% are for Bart's hydrops fetalis, 8% for HbE/beta-thalassemia. 6% for HbS/beta-thalassemia, 2% for sickle cell anemia and the remaining 8% for other combinations of thalassemia/hemoglobinopathies. Of the 178 patients with beta-thalassemia major, sickle cell disease or beta-thalassemia in combination with HbE or HbS, only 5 are less than 5 years old, reflecting both the success of the screening program and the increasing acceptance by couples of 1st trimester prenatal diagnosis.

Australia↗