Related Experiment Video
Updated: Jul 25, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Severe homozygous HbE disease: the first case report from Nepal
Urza Bhattarai1, Dibasha Adhikari1, Arun Gautam1
1Department of Internal Medicine, B.P. Koirala Institute of Health Sciences, Dharan, Nepal.
Abstract:
Hemoglobin E (HbE) is the most prevalent hemoglobinopathy in the eastern Indian subcontinent. We presented the case of a 53-year-old male from Nepal with a history of multiple blood transfusions who presented with abdominal fullness for 15 years and easy fatigability for 2 months. He had pallor and massive splenomegaly. Laboratory parameters showed pancytopenia with microcytic anemia, indirect hyperbilirubinemia, target cells in the peripheral smear and iron overload. A computed tomography scan of the abdomen showed multiple splenic infarcts. Hemoglobin electrophoresis was suggestive of HbE homozygous disease. Based on these findings, we made a diagnosis of HbE homozygous disease. We provided symptomatic treatment and folic acid supplementation and counseled him for splenectomy and genetic screening. Our case highlighted the uncommon presentation of Hb E disease.
More Related Videos
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hemoglobin
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...
Rh Blood Group
Multiple Allele Traits
Disorders of Erythrocytes
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...

