Hb E-β-Thalassemia in Five Indian States
| Autor: | Kanjaksha Ghosh, Pooja Dabke, Pratibha Sawant, Khushnooma Italia, Anita Nadkarni, Roshan B. Colah |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Adult
medicine.medical_specialty Adolescent Thalassemia Clinical Biochemistry India Severity of Illness Index 03 medical and health sciences 0302 clinical medicine Internal medicine Medicine Humans Child Genetics (clinical) Molecular Epidemiology business.industry Hemoglobin E Biochemistry (medical) beta-Thalassemia Infant Hematology medicine.disease 030220 oncology & carcinogenesis Child Preschool Mutation Splenomegaly West bengal Presentation (obstetrics) Uttar pradesh business Gene Deletion 030215 immunology |
| Zdroj: | Hemoglobin. 40(5) |
| ISSN: | 1532-432X |
| Popis: | Hb E [β26(B8)Glu→Lys; HBB: c.79G A]-β-thalassemia (β-thal) has an extremely variable clinical presentation. We report the clinical features of these patients from five Indian states together with their hematological and molecular characteristics. Seventy-eight Hb E-β-thal patients from different regions [West Bengal (30), Maharashtra (21), Uttar Pradesh (13), Bihar (11), Orissa (3)] were clinically evaluated along with hematological profiles and molecular characteristics (β-thal mutations, XmnI polymorphisms, α genotypes). Twenty-nine of the 78 patients had a mild clinical presentation (clinical score 2.2 ± 1.1), while 15 had moderate severity (clinical score 6.1 ± 1.2) with occasional transfusion needs, and 34 patients were severely affected (clinical score 8.2 ± 0.5) requiring regular blood transfusions. The age at clinical presentation in the severely affected patients was lower (6 months-10 years) as compared to those with milder symptoms (2 years-34 years). Thirty-four patients showed splenomegaly (spleen ≥3 cm below the costal margin) and five patients were splenectomized. The severe β |
| Databáze: | OpenAIRE |
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