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A case of homozygous sickle cell disease in Sri Lanka
1Lady Ridgeway Hospital, Colombo.
Abstract:
An 11 year old Muslim boy with a 2 month history of fever, loss of appetite, pallor and abdominal distension, had hepato-splenomegaly. Haemoglobin electrophoresis showed the presence of haemoglobins S and F, with complete absence of haemoglobin A. The sickling test was positive. Marital consanguinity was present. In both parents, the sickling test was positive and haemoglobin electrophoresis showed the presence of haemoglobins A and S. This is the first report of homozygous sickle cell disease in Sri Lanka.
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Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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