Khairwa A, Kotru M, Dewan P. A Compound Heterozygous of Hb E and Beta Thalassemia Independent of Transfusion: A Rare Case Report. Iran J Ped Hematol Oncol 2024; 14 (4) :315-319
URL:
http://ijpho.ssu.ac.ir/article-1-864-en.html
Departments of Pathology, University College of Medical Sciences & GTB hospital, Delhi & Departments of Pathology, University College of Medical Sciences & GTB hospital, Delhi
Abstract: (41 Views)
Hemoglobinopathy is now a worldwide problem. Mainly described in Southeast Asian countries. A compound heterozygous form of hemoglobin (Hb) E & β thalassemia was reported to be 50% of all severe forms of thalassemia. Clinical presentation of HbE/ b thalassemia is reported to be moderate to severe anemia. The children usually present at the age range of 7 months to 6.9 years. The clinical severity is affected by genetic factors, including mutation in a chain (β thalassemia), alpha-chain (a thalassemia), amount of adult Hb, and co-inheritance of another hemoglobinopathy. Here, we present a rare case of compound heterozygous of HbE/ β thalassemia), who survived without transfusion and complication until eight years of age. Peripheral blood smears and complete blood count showed microcytic hypochromic anemia. High-performance chromatography showed a compound heterozygous of HbE/ β thalassemia.
Type of Study:
case report |
Subject:
General Received: 2024/05/26 | Accepted: 2024/05/26 | Published: 2024/10/2