Indian Journal of Hematology and Blood Transfusion | 2019
Clinico-Hematological Presentation of Rare Hemoglobin Variant (HB-O Indonesia) in 3 Families
Abstract
In India, Hemoglobinopathies poses a significant burden on the society. It can be prevented by screening, genetic counseling and antenatal diagnosis. During a community screening program, A rare Hb-O Indonesia (HBA1:c.349G[A) (HbOind) in 3 unrelated families of the same Jharia community were encountered. This variant has a heterogeneous phenotypic effect thereby necessitating a need for correlating it with associated clinical presentations. Here, red cell indices of individuals carrying HbOInd (other than the proband) were within the normal range (Table 1). In case 1, the cause of low Hb level in proband may be due to other etiologies such as iron deficiency anemia or erythropoietin deficiency which is common in geriatric age. These etiologies were not investigated. In the family 2, proband had microcytic hypochromic anemia along with mild splenomegaly suggesting a suspected clinical manifestation due to HbOInd. However the other causes of anemia and splenomegaly were not ruled out. On the other hand, proband’s sibling, a compound heterozygote for both HbOInd and HbS, was asymptomatic with near normal red cell indices when tested. In family 3, proband was symptomatic with mild anemia with microcytic and hypochromic RBCs and complained of frequent abdominal pain that may be due to coinheritance of HbS. Individuals having HbOInd either in heterozygous or in compound heterozygous state with HbS presented here show variable hematological presentations warranting detailed molecular and routine clinical analysis. In all 3 cases, the Hb-O Indonesia was identified by hemoglobin electrophoresis at alkaline pH, High performance Liquid chromatography followed by sequencing of alpha globin gene (Fig. 1).