Introduction: SEA ovalocytosis and haemoglobin E beta thalassemia are relatively common conditions in Malaysia and some other SEA countries. However, the coexistence of these two conditions is not very common. Thus, its recognition and diagnosis is very important so that appropriate management is given to the patient and genetic counselling may be offered to the parents.
Case Report: A 6.5 year old, previously well, Malay boy presented with fever, chills and rigors, URTI symptoms and lethargy for the past 1 week. He was pale, mildly jaundiced and per abdomen examination revealed hepato-splenomegaly of 5 cm and 4 cm, respectively. There was no bleeding tendency. His G6PD status was normal. He was not a picky eater and his appetite was good prior to the symptoms. His brother was diagnosed as Hemoglobin E beta-thalassemia with history of frequent packed transfusions. Their father was a heterogygous Hb E and the mother was a beta thalassemia trait. FBC showed Hb: 39 g/ L whilst WBC and platelets were within normal ranges.Peripheral blood film showed thalassemia intermedia features with presence of many ovalo-stomatocytes. Hemoglobin analysis : compatible with compound Heterozygous Hemoglobin E with Beta Thalassemia; the molecular thalassemia diagnosis will be discussed. PCR analysis showed heterozygosity for SEA ovalocytosis with band 3 deletion.
Discussion: SEA ovalocytosis is known to confer malaria-resistance, however, its coexistence with haemoglobin E beta-thalassemia; which is also quite common in this region, has worsen the clinical presentation usually seen in hemoglobin E beta-thalassemia patients. A deletion of band 3 in SEA ovalocytosis, causes RBC to be rigid. This further exaggerates the anemia caused by chronic hemolysis that occurs in hemoglobin E beta-thalassemia.
Conclusions: To diagnose hemoglobin E beta-thalassemia and SEA ovalocytosis coexistence one has to have a high index of suspicions based on the clinical presentation, family history and. Appropriate management need to started early and genetic counselling of the parents is crucial.
Keywords: hemoglobin E beta-thalassemia, SEA ovalocytosis, hemoglobin E beta-thalassemia and SEA ovalocytosis coexistence, malaria-resistant, genetic counselling.
References:
Coexistence of SEA Ovalocytosis and beta-thalassemia: a molecular and hematological analysis. Fuchareon G, et al . Am J Hematol. 2007.
Deletion in erythrocyte band 3 gene in malaria-resistant SEA ocalocytosis. P. Jarolim, et al. Proc Natl Acad Sci USA, 1991 Dec 15; 88(24): 11022-11026.