TALASEMIA BETA HEMOGLOBIN E (Hemoglobin E Beta Thalassemia)

Abstract

Thalassemia is a quantitative abnormality of the hemoglobin marked by inadequate hemoglobin synthesis due to the lack or
absence of synthesis of one or more globin polypeptide chains. Hemoglobin variant is a qualitative abnormality due to the presence of
the abnormal amino acid sequence of one or more globin polypeptide chains. HbE β thalassemia is a disorder of hemoglobin that results
from the fusion between the gene β-thalassemia allele from one parent with a gene HbE allele from another parent. In this case, HbE
β-Thalassemia patient was a 4.8 year girl diagnosed with hemoglobin E-beta thalassemia based on history and clinical manifestations;
pale, the presence of splenomegaly and hepatomegaly. Laboratory tests were Hb: 7.7 g/dL, MCV: 52.9 fl, MCH: 17.7 pg, MCHC: 33.5
g/dL and ferritin: 1012 ng/mL. Peripheral blood smear evaluation showed a microcytic hypochromic anemia with hemolytic signs and
infected features of leukocytes. Hb electrophoresis using HPLC showed a Hb F: 37.7% and HbA2 52.4%, indicating that HbA2 was false
high due to coeluating with HbE. The patient was treated by blood transfusion and received additional therapy such as folic acid, iron
chelation and vitamin E.