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PubMed2006

Analysis of intelligence quotient in patients with homozygous beta-thalassemia.

OBJECTIVE: To compare the intelligence quotient (IQ) of patients with thalassemia major (TM) to that of normal children. METHODS: We conducted the study in April and May 2002 on 294 homozygote beta-thalassemia patients, (157 male and 137 female, mean age of 13.2 years; range, 9-18 years). These 294 patients were randomly selected from the 984 TM patients who routinely refer to Shiraz Cooley's Medical Center in Dastgheyb Hospital, Iran for blood transfusion. Another 294 subjects age and gender matched control group were studied. Intelligence quotients were computed using the Ravin test. RESULTS: The mean IQ score +/- standard deviation (SD) in the thalassemia group was 109.83 +/- 15.94. This score revealed no statistically significant difference with the control group's score (p<=0.079). A correlation existed between the thalassemia patients' IQ and their level of education (p<0.049). CONCLUSION: The IQ of TM patients does not differ significantly from the normal population.

Adolescent↗
PubMedDate not supplied

Sickle cell-thalassemia in a Jordanian family.

A family case report of sickle cell-thalassemia syndrome shows three problems concerning this disease. Firstly, the problem of differentiating sickle cell-thalassemia from the sickle cell disease; secondly, the wide range varieties in clinical picture; thirdly and finally contradiction in the criteria of prognosis. In this report sickle cell-thalassemia case was confirmed by constructing a hemoglobin electrophoresis pedigree for the patient. Clinical varieties and prognosis of sickle cell-thalassemia in this family are discussed.

Anemia, Sickle Cell↗
PubMed1991

Evaluation of naked eye single tube red cell osmotic fragility test in detecting beta-thalassemia trait.

The Naked Eye Single Tube Red Cell Osmotic Fragility Test (NESTROFT) was applied to 4 groups of subjects: (i) Normal; (ii) Proven beta-thalassemia trait carriers; (iii) Iron deficiency anemia; and (iv) other hemoglobinopathies, to evaluate its effectiveness as a screening test for beta-thalassemia minor. The test was successful in detecting 105/110 subjects with beta-thalassemia trait. The sensitivity of the test was 95.5% and specificity was 87%. The predictive value of the positive test was 70.5% and that of the negative test was 98.3%. NESTROFT was also positive in 9/17 subjects with HbS trait, in 3/3 subjects with HbD trait and in 1/1 subjects with HbE trait. The test proved to be simple, cheap, easy to perform and adaptable for field surveys, coming close to an ideal screening test for beta-thalassemia minor.

Child↗
PubMedDate not supplied

The pattern of thalassemia in children at the Department of Child Health, School of Medicine University of North Sumatera/Dr. Pirngadi Hospital, Medan.

A study of the characteristics of childhood thalassemia was conducted at the Sub Department of Pediatric Hematology, Dr. Pirngadi Hospital from June 1979 to May 1989. There were 131 cases, consisting of 75 (57.25%) boys and 56 (42.75%) girls with an average of 12 admission every year. The predominant age group was 0-2 years, and the youngest was 3 months old. Javanese ethnic group appeared predominant in 36 (63.15%) cases. Clinical symptoms of anemia were found in 112 (85.49%), hepatomegaly in 91 (69.46%), hepatosplenomegaly in 84 (64.12%), without enlargement of organ in 17 (12.97%), and icterus in 6 (4.58%). Hb-Electrophoresis was done in 42 cases, revealing 26 (61.90%) with thalassemia major, 15 (35.71%) Hb E thalassemia, and 1 (2.20%) Hb H thalassemia. Hb value at the first admission in 65 (49.62%) was less than 5 g/dl, in 63 (48.09%) it was 5-10 g/dl and in 3 (2.29%) more than 10 g/dl.

Adolescent↗
PubMed1991

[Nuclear magnetic resonance and iron overload in thalassemia].

We assessed the iron load content in 36 beta-thalassemia patients by NMR correlating the results with serum ferritin levels. 22 of them were affected by beta-thalassemia major on hyper-transfusional regimen (Group A), 4 by beta-thalassemia intermedia (Group B) and 10 by beta-thalassemia major, who had been previously bone marrow transplanted (Group C). In A and C Groups the liver showed the lowest signal intensity on spin echo images (p less than 0.01; p less than 0.06, respectively). A significant correlation between the summation of signals obtained from all the examined organs and serum ferritin levels was observed by evaluating both all the patients globally (r = 0.78; p less than 0.001) and the A and C Group patients. This correlation was confirmed only in the liver both in all the patients (r = 0.77; p less than 0.001) and in A and C Group patients, when the signals obtained from each organ were evaluated.

Adolescent↗
PubMedDate not supplied

Beta zero and beta+ thalassemia genes in northern Greece.

In an attempt to estimate the prevalence of beta thal zero and beta thal+ thalassemia genes in northern Greece we analyzed hemoglobin samples of 32 subjects with sickle cell thalassemia (beta s/beta thal), from an area of northern Greece (Chalkidiki, 22-24E, 41-42N), where thalassemia and sickle cell disease are common. 24 subjects had no detectable Hb A and only 8 had Hb A ranging grossly between 3-5 per cent in six patients and 10-15 per cent in two patients. Thus the estimate of the relative frequency of the beta thal zero to the beta thal+ was found to be 0.75 +/- 0.077. For the beta thal+ gene, our findings are in agreement with all other Greek investigations in that it is associated with a low or very low presence of Hb A. As to frequencies, however, our findings differ significantly from results reported from other Greek investigators who examined mainly the population of Athens, and this may be explained by an uneven distribution of the various types of thalassemia genes in the various parts of Greece.

Alleles↗
PubMed1991

The interactions of alpha-thalassemia with hemoglobinopathies.

Because of their high prevalence throughout the world, alpha-thalassemia and hemoglobinopathies often occur in the same individual. Southern blot hybridization analysis of the alpha-globin gene cluster permits the detection of the common deletion alpha-thalassemias and the definition of the phenotypes affiliated with the interactions of alpha-thalassemia and hemoglobinopathies. Important insights into the pathophysiology of Hb SS have been gained, and the nature of the perturbation of heterozygous hemoglobinopathies by alpha-thalassemia has been established.

Anemia, Sickle Cell↗
PubMed1991

Spleen function in children with sickle B+ thalassemia.

Splenic function in patients with sickle B+ (SB+) thalassemia has been poorly documented. We evaluated the clinical course and splenic function in 12 children with SB+ thalassemia with simultaneous technetium sulfur colloid spleen scans and determination of pitted erythrocytes by direct interference contrast microscopy (DICM). All patients displayed normal uptake of radiocolloid. Mean percentage of pitted erythrocytes was 2.2% compared to 0.06% in 10 normal eusplenic controls and 13.8% in 10 sickle cell patients. In this group of children, who were carefully monitored for 136 patient years, there was no episode of bacteremia/sepsis, and a low prevalence of vaso-occlusive episodes. The slight increase in percentage of pitted erythrocytes of SB+ thalassemia patients does not seem to herald any clinically relevant loss of splenic function. SB+ thalassemia children younger than 10 years of age who do not seem to present a higher risk of invasive bacterial infections than eusplenic children, should receive conservative treatment for isolated febrile episodes and should not be submitted to prophylactic penicillin.

Adolescent↗
PubMed1991

Erythrocyte membrane deformability in patients with thalassemia syndromes.

The purpose of this study was to measure the erythrocyte membrane's elasticity in patients with thalassemia syndromes. These syndromes have been well investigated regarding the problems associated with the hemoglobin solution. A few studies dealing with the whole cells' flexibility have also been published. However, there are extremely few studies regarding the elastic behaviour of the membrane of these cells which plays a significant role in the viability of these erythrocytes especially when they transverse the small capillaries of the spleen. The micropipette aspiration method was used for this purpose. Cells from patients with thalassemia syndromes were aspirated into micropipettes of internal diameter of 1.2-1.6 microns. The slope of the curve relating the length of the aspirated tongue to the negative pressure was measured to give the elastic shear modulus. This modulus was compared with the one of the normal cells. Inclusions (Heinz bodies) were produced artificially in normal cells and their elastic shear modulus was also measured. The results show that the elastic shear modulus measured in homozygous beta-thalassemia was 33% higher than the normal one. The elastic shear modulus in cells with artificial Heinz bodies was also higher than the normal one and its value increased with the number of the inclusion Heinz bodies. The elastic shear modulus in heterozygous beta-thalassemia was slightly higher than the normal one. The apparent stiffening of the membrane of the homozygous cells might be partially due to the "constraining effect" of the inclusions to the membrane's ability to deform freely.

Elasticity↗
PubMed1991

Red cell and plasma calcium, copper and zinc in beta-thalassemia/hemoglobin E.

Beta-thalassemia/Hb E is a genetic disease prevalent in Thailand. This study has used atomic absorption spectroscopy to evaluate red cell and plasma calcium, copper and zinc in patients with beta-thalassemia/Hb E, both splenectomized and non-splenectomized. The levels of these trace elements in both red cells and plasma were different between the non-thalassemic controls and the disease patients. The most prominent result was that calcium concentration in red cells increased significantly in thalassemia subjects, particularly in splenectomized cases. These results might reflect the abnormal trace element metabolism and defects in the calcium transport system of the red cell membrane in thalassemia.

Adult↗
PubMed1990

Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes.

beta-Thalassemia minor occurs at approximately 1% frequency in French-Canadians--in families residing in Portneuf County (population approximately 40,000) of Quebec province. We found eight different RFLP haplotypes at the beta-globin gene cluster in 37 normal persons and in 12 beta-thalassemia heterozygotes from six families. beta-Thalassemia genes in these families associated with two haplotypes only: Mediterranean I and Mediterranean II. There were two different beta-thalassemia mutations segregating in the Portneuf population: an RNA processing mutation (beta(+)IVS-1,nt110) on haplotype I (five families) and a point mutation leading to chain termination (beta(0) nonsense codon 39) on haplotype II (one family). The distribution of 5' haplotypes on normal beta A Portneuf chromosomes compared with other European populations was most similar to that in British subjects (data for French subjects have not yet been reported). Genealogical reconstructions traced the ancestry of carrier couples to settlers emigrating from several different regions of France to New France in the 17th century. These findings indicate genetic diversity of a greater degree among French-Canadians than recognized heretofore.

DNA Mutational Analysis↗
PubMed1991

[Incidental diagnosis of homozygous alpha-zero thalassemia in a 21 week old fetus].

A fetus with signs of hydrops fetalis syndrome of unknown etiology, has been studied at 21 weeks. In fetal blood, total absence of HbA and HbF, presence of Hb Bart's, Hb Portland and HbH argued in favor of alpha zero-thalassemia syndrome. Because thalassemia syndromes were transmitted in a mendelian autosomal fashion, we studied the parents. Results suggest that the father was carrier of heterozygous alpha zero-thalassemia syndrome and the mother of hemoglobin H disease (and also heterozygous HbE). Neither of them was aware of being carrier of the disease but this results explain the fetal homozygous alpha zero-thalassemia.

Female↗
PubMedDate not supplied

Beta-, delta beta-thalassemia and Hb lepore among Yugoslav, Bulgarian, Turkish and Albanian.

Over the past 20 years we have studied 1781 patients with beta-thalassemia syndromes of which 1481 Yugoslav, 166 Bulgarian, 102 Turkish and 32 Albanian. In this paper we summarize the data on the heterogeneity and molecular basis of beta-thal, delta beta-thal and Lepore hemoglobinopathy in these four nationalities living in Yugoslavia and Bulgaria. Beta-thalassemia is the most frequent form of thalassemia in all four nationalities. At the phenotypic level 9 different forms were detected, while at the genotypic level 17 different mutations were characterized. DNA analysis of 377 beta-thal chromosomes showed that in Yugoslav 5 mutations (IVS I#110, IVS I#6, IVS I#1, Codon #39 and Poly A (A----G)) account for 83% of the beta-thal genes, while in Bulgarian 6 mutations (IVS I#110, Codon #39, IVS II#6, IVS II#745, Codon #8 and Codon #8/9) account for 76% of the beta-thal genes. In Turkish the most common mutation is IVS I#110, followed by IVS I#6, IVS II#1 and Codon #8, while in Albanian IVS I#110, Codon #39 and IVS I#6 are prevalent. Delta beta-thalassemia is the second most common form of thal in Yugoslav (10.8%) and Bulgarian (4.2%) but not in Turkish and Albanian. At the phenotypic level 6 different forms were detected, while at the molecular level 3 different deletions (approximately 15 kb, approximately 23 kb, and approximately 148 kb) were characterized. Hb Lepore is the third most common hemoglobinopathy among Yugoslav (9.6%) and most probably Bulgarian (3.67%). This condition was observed in homozygous (n 7) and heterozygous (n 124) state, and in association with beta zero-thal (n 5), beta(+)-thal (n 11), (delta beta)zero-thal (n 1), and Hb Beograd (n 1). Haplotype analysis of 29 lepore chromosomes from 9 unrelated families showed that Hb Lepore is associated with haplotype V.

Adolescent↗
PubMed1990

[Testing of G----A mutation in position 110 of a minor intron of beta-globin genes in patients with thalassemia in Azerbaijan].

A point mutation G-A in the 110 position of the beta-globin gene small intron has been revealed by cloning and sequencing from the material of a homozygote beta-thalassemia patient in Azerbaijan. In the present study two allele-specific oligonucleotide probes for testing the mutation have been synthesized. Assessment frequency of the mutation among the beta-thalassemia patients in Azerbaijan has been performed with the use of the amplified beta-globin gene fragments obtained by using the thermostable DNA-polymerase from T. thermophilus with the subsequent dot-hybridization in gel of the amplified material with the oligonucleotide probes. The possibility to test the mutation by hybridization of the oligonucleotide probes with the donors and beta-thalassemia patients restricted genomic DNA has been analyzed. Only one of 50 thalassemia alleles of beta-globin genes under study has been shown to possess the mutation mentioned.

Azerbaijan↗
PubMed1990

The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.

In this review I have outlined the molecular basis and prenatal diagnosis of alpha-thalassemia and then concentrated on the state of our knowledge of the molecular basis of beta-thalassemia and its prenatal diagnosis. I discussed the improved but more complicated genetic counselling now available as a result of our increased knowledge of the effects of various defects in the beta-globin gene. Our knowledge of the heterogeneous molecular basis of the thalassemia syndromes has become very impressive and it is hoped that effective therapy will soon follow. For the present, however, prevention of the birth of affected children is the most effective means of reducing the suffering associated with the thalassemia syndromes, and prevention of this type is succeeding in many parts of the world, including North America.

Chromosome Deletion↗
PubMed1990

Mouse beta thalassemia, a model for the membrane defects of erythrocytes in the human disease.

The present study describes the pathophysiology, at the cellular level, of the mouse beta thalassemia and shows the pertinence of this model for the human disease. The homozygous state of mouse beta thalassemia is characterized by a clinical syndrome similar to the human beta thalassemia intermedia, but it cannot be explained by the small deficiency in beta chain synthesis. The small pool of unpaired and soluble alpha chains present in mouse reticulocytes contrasts with the large amount of insoluble alpha chains in erythrocytes which is induced by the high instability of mouse alpha chains and the absence of significant proteolysis. The amount of insoluble alpha chains associated with red cell ghosts is similar in human and mouse disease of similar severity. The study of membrane protein defects showed a decreased amount of spectrin (alpha and beta chains) and dramatic changes in the distribution of the most reactive thiol groups of membrane proteins. These results were similar to that previously described in the human disease (Rouyer-Fessard, P., Garel, M. C., Domenget, C., Guetarni, D., Bachir, D., Colonna, P., and Beuzard, Y. (1989) J. Biol. Chem. 264, 19092-19098). Abnormal density distribution curves of erythrocytes and oxidant-induced lysis of red blood cells used as functional tests were similar in the human and mouse beta thalessemia. We conclude from the present study that 1) mouse beta thalassemia is an excellent model for the membrane defects occurring in the human disease; 2) disease expression is not the reflection of the globin chain unbalance only nor of the soluble pool of alpha hemoglobin chain but mainly is a reflection of insoluble alpha chains; and 3) the rate of proteolysis and instability of alpha chains are important factors which must be taken into consideration in the pathophysiology and the clinical heterogeneity of the disease.

Animals↗
PubMed1990

[The diagnosable rate of beta-thalassemia in Chinese population and the strategy for selecting genetic markers in prenatal diagnosis of the disease].

It is possible to use some beta-thalassemia gene linkage markers for prenatal diagnosis of the disease currently. But there are some limitations due to incomplete linkage between these genetic markers and beta-thalassemia gene in population. The diagnosable rate of the genetic markers and their combinations have been calculated according to the polymorphism distribution data of the seven genetic markers in Chinese population. Then according to the diagnosable rate of each genetic marker and their combinations, the following is deduced: (1) Precedent estimation to the diagnosable rate of prenatal diagnosis; (2) Select the optimum strategy for prenatal diagnosis of beta-thalassemia suitable for Chinese population. In this paper, an optimum line is presented, regarding to select genetic markers for prenatal diagnosis of beta-thalassemia in Chinese population. Meanwhile, the method of gene linkage analysis and that of using oligonucleotide probe are compared.

Asian People↗
PubMed1990

Acetabular protrusion in thalassemia. A report of four cases.

Four female patients with thalassemia intermedia developed secondary acetabular protrusion. These cases could be the first reported cases of nontraumatic acetabular protrusion in patients with thalassemia. The rarified pelvic bone may be due to medullary hyperplasia, iron overload, or disordered calcium metabolism in conjunction with osteomalacia. The fact that currently patients with beta-thalassemia have a longer life expectancy may explain the recent observation of this entity, which should become more familiar to orthopedic surgeons who treat thalassemia patients in the future.

Acetabulum↗