Letters to the Editor Indian Pediatrics 2005; 42:610-611 |
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Hereditary Spherocytosis in a Family from Tamil Nadu |
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Three siblings, two males aged twelve and nine years, and one female aged eleven years who were brought to our hospital for the complaints of breathlessness on exertion, puffiness of face and abdominal pain were observed to have mild jaundice, anemia and splenomegaly. The past history was unremarkable except for recurrent episodes of jaundice in all of them. Since the jaundice showed fluctuation in severity and several members of their family also had jaundice and were doing well they did not show further interest in the symptom. The family tree is shown in the Fig. I
From the history and clinical findings a diagnosis of familial hemolytic anemia was made. Investigations were suggestive of hereditary spherocytosis. Ultrasound examination of the abdomen did not show any evidence of cholelithiasis. Screening of other family members could not be done because of practical difficulties. Based on the laboratory findings in these children and from the history, it was concluded that other family members with jaundice also probably had HS. About 80% of patients with HS show an autosomal dominant pattern of inheritance(4) as seen in the present family. In the dominantly inherited form, the deficiency is mild and hence the anemia is mild, while in the non dominant forms the deficiency is greater and the anemia severe. The mild nature of the disorder in our children could be because of the dominant pattern of inheritance in them. Splenectomy results in significant improvement in the clinical condition and prevents complications such as cholelithiasis. However, the advantages of splenectomy have to be weighed against the complications of surgery. In mild cases splenectomy may not be indicated. Since our children had only a mild disorder, splenectomy was not advised. They were put on folic acid suppplementation and are doing well on follow up. M.R. Das,
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