TALASEMIA BETA HEMOGLOBIN E (Hemoglobin E Beta Thalassemia)
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...
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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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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...
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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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Abbreviations: CBC, complete blood count; Hb, hemoglobin; HPLC, high-performance liquid chromatography. 2011;26:162-5. 7. Cho HY, Lee BS, Moon KC, Ha IS, Cheong HI, Choi Y. Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate. Pediatr Nephrol 2007;22:874-80. 8. Frémeaux-Bacchi V, Miller EC, Liszewski MK, et al. Mutations in complement C3 predispose to developm...
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ژورنال
عنوان ژورنال: INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY
سال: 2018
ISSN: 2477-4685,0854-4263
DOI: 10.24293/ijcpml.v21i3.1286