Case Series on Hemoglobin E-Beta-Thalassemia Major
نویسندگان
چکیده
منابع مشابه
Hemoglobin E-beta thalassemia in Uttar Pradesh.
OBJECTIVE To evaluate the molecular make up of hemoglobin E-Beta thalassemia to facilitate diagnosis, genetic counseling and prenatal diagnosis in Uttar Pradesh. DESIGN DNA analysis. SETTING Referred hemolytic anemia cases to Genetics OPD of a tertiary care center. SUBJECTS 21 families of HbE-thalassemia of which 19 were of UP origin. METHODS The patient and obligate carriers in their f...
متن کاملHemoglobin E-beta thalassemia: factors affecting phenotype.
The phenotype of E-beta-thalassemia is affected by several genetic factors. The aim of this study was to analyze severity of E-beta-thalassemia and correlate with HbE, HbF, E/F ratios, beta-mutation and Xmn I polymorphism. Thirty cases of E-beta-thalassemia (23 with childhood onset) were studied. HbE levels were quantitated by HPLC. Xmn1 polymorphism and beta-mutations were studied by PCR-RFLP ...
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Background: Beta thalassemia gene mutations are among common mutations in southwest Iran. However, Hemoglobin E (Hb E) and Hb E/β⁰ thalassemia account for a small number of hemoglobinopathies in Iran. This is the first study to directly address the existence of Hb E and consequently Hb E/β⁰ thalassemia in southwest Iran. Methods: This retrospective study discovered seven cases of Hb E/β⁰ thal...
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OBJECTIVE The diverse clinical phenotype of hemoglobin E (HbE)/β-thalassemia has not only confounded clinicians in matters of patient management but has also led scientists to investigate the complex mechanisms involved in maintaining the delicate red cell environment where, even with apparent similarities of α- and β-globin genotypes, the phenotype tells a different story. The BTB and CNC homo...
متن کاملIs hemoglobin instability important in the interaction between hemoglobin E and beta thalassemia?
Hemoglobin E (HbE; alpha2beta226glu-lys), globally the commonest hemoglobin variant, is synthesized at a slightly reduced rate and has a homozygous phenotype similar to heterozygous beta thalassemia. Yet, when it is inherited together with a beta thalassemia allele, the resulting condition, HbE/beta thalassemia, is sometimes characterized by a severe, transfusion-dependent thalassemia major. Th...
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ژورنال
عنوان ژورنال: Journal of Pharmaceutical Research
سال: 2016
ISSN: 2454-8405,0973-7200
DOI: 10.18579/jpcrkc/2016/15/3/103042