A Rare Family Afflicted with Multiple Hemoglobin Disorders from Rewa District of Madhya Pradesh in Central India

By Balgir, Ranbir S. | International Public Health Journal, April 1, 2013 | Go to article overview

A Rare Family Afflicted with Multiple Hemoglobin Disorders from Rewa District of Madhya Pradesh in Central India


Balgir, Ranbir S., International Public Health Journal


Introduction

Of the several hemoglobin variants so far identified and found predominantly prevalent, only three variants - sickle cell (Hb S), hemoglobin E (Hb E) and hemoglobin D (Hb D) are very common in the Indian population (1). The average allele frequency of sickle cell gene has been estimated to be 4.3% in India and that of hemoglobin E being 10.9% in North Eastern region of India (2). With a wide prevalence range of 3-17% and an average being 4.2%, the b- thalassemia commonly encounters throughout India with a wide range of geographical variations (1). The sickle cell disease is wide spread in tribal as well as nontribal communities especially belonging to Central-Eastern part of India (3).

No genetic disease could be as simple as the sickle cell disease. It is a simple disease but there is no cure. In the absence of any cure, the majority of the sickle cell patients have a miserable and short life span (4). Instances of sudden death in such cases have also been reported. This genetic disease is responsible for considerable morbidity and mortality (5). The majority of cases need first blood transfusion between one to three years of age reflecting a high morbidity especially in the preschool age. At this age, cross infection is more common, which could precipitate a sickle cell crisis (4, 6, 7). The anemia in sickle cell trait (AS) is mild and infrequent and one must look for other causes of anemia in them like iron deficiency, parasitic infestations, malaria, etc. The sickle cell disease affects the ability of red blood corpuscles (RBCs) to carry oxygen to various parts of the body by acquiring the shape of a sickle. In the absence of oxygen, the distortion in shape and size of cells leads to increased blood viscosity and blocking of the small vessels, resulting in devastating pain. The pain originates virtually at any time in any organ of the body in joints or bones. The disease carries the risk of debilitating fatigue, blindness, organ damage, and cardiac stroke within a life span of just about 20- 30 years (4, 7). The symptoms of the disease include anemia, hand-foot syndrome and infection. The clinical course of these patients is punctuated by episodes of "crisis" and increased susceptibility to serious infections because of functional asplenia. The usual complications are vaso-occlusive crises (severe pain in almost all parts of the body), hemolytic crises (yellow eyes, jaundice or hepatic infection), aplastic crises (diminished production of RBCs) and the deadliest of complications, the sequestration crises (blood suddenly goes to spleen) (4, 7).

Double heterozygosis for hemoglobin disorders is a rare entity. Due to the paucity of adequate literature available on the occurrence of heterosis for hemoglobinopathies in India and the hemoglobinopathies being a major genetic and public health problem in the state of Madhya Pradesh, the present family was investigated in details for double heterozygosity of sickle cell and hemoglobin E interacting with b-thalassemia. This study will not only add to prognostic understanding of the heterosis phenomenon for hemoglobinopathies in the state but also be useful for genetic counseling, prenatal diagnosis and future molecular studies on the subject in India.

Methods

The index case was referred to us as a suspected case of hemolytic anemia and hemoglobinopathy from Pediatric Out-patient Department, Netaji Subhash Chander Bose Medical College and Hospital, Jabalpur for detailed investigations. Subsequently, the other members of the family were also investigated after taking informed/written consent and a family pedigree was drawn.

About 2-3 ml. intravenous blood samples were collected using ethylene diamine tetra acetic acid (EDTA) as anticoagulant by disposable syringes and needles from each individual after obtaining the informed consent. All the signs and symptoms related to hemoglobinopathy after clinical examination were recorded. Laboratory investigations were carried out following the standard procedures after cross checking for quality control from time to time. …

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