Congenital non spherocytic hemolytic anemia (CNSHA) due to pyrimidine 5' nucleotidase deficiency.
نویسندگان
چکیده
Serum bilirubin was in the range 2 to 5 mg/dL. Osmotic fragility showed mild increase in fragility (Test 0.5-0.28: Control 0.44-0.34). Hb electrophoresis was normal. HbF was <2%, G6PD enzyme level was normal. Direct Coomb’s test and sickling test were negative. HBSAg and HCV and ANA were negative. USG abdomen showed splenohepatomegaly. The pedigree showed that the mother’s uncle also had similar illness and laboratory findings. He was investigated 15 years ago at 28 years of age and is doing well. Both the parents were clinically and hematologically normal. No one was affected on the paternal side.
منابع مشابه
A family with red cell pyrimidine 5'-nucleotidase deficiency.
Congenital hemolytic anemia associated with pyrimidine 5'-nucleotidase deficiency is reported in two siblings. Both have had moderate chronic hemolytic anemia, splenomegaly, and jaundice since early infancy. The peripheral blood smear is characterized by striking red cell basophilic stippling. As this feature has been found in all previously reported cases, it should be the clue to the diagnosis.
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The mature, anueleate human red cell is incapable of synthesizing en zymes and is dependent upon anaerobic metabolism to m eet its energy requirements. Thus, inherited red cell enzyme deficiencies of the glycolytic pathway often result in chronic nonspherocytic hemolytic anemia (CNSHA). The hexosemonophosphate (HMP) shunt is normally relatively inactive and enzyme deficiences, such as G-6-PD d...
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متن کاملA Family With Red Cell Pyrimidine 5 ’ - Nucleoti . lase Deficiency
Congenital hemolytic anemia associated fancy. The peripheral blood smear is charwith pyrimidine 5’-nucleotidase deficiency acterized by striking red cell basophilic is reported in two siblings. Both have had stippling. As this feature has been found moderate chronic hemolytic anemia, splein all previously reported cases, it should nomegaly, and jaundice since early inbe the clue to the diagnosis.
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عنوان ژورنال:
- Indian pediatrics
دوره 43 2 شماره
صفحات -
تاریخ انتشار 2006