Sickle cell trait & disease among tribal communities in Orissa, Madhya Pradesh & Kerala.

A study of 2570 tribals comprising 973 from Kerala, 696 from Madhya Pradesh and 901 from Orissa revealed the frequency of sickle cell gene to vary from 0.05 to 0.31 among different communities. High frequency of the gene (0.145 or more) was observed among Chettys, Kurmars and Kondhs, who also had a substantial number of homozygous sicklers. None of those with sickle cell disease (HbSS) were more than 39 yr in age as compared with 9.9-35.3 per cent among heterozygotes (HbAS). Mean foetal haemoglobin in those with sickle cell disease varied between 9.7 to 13.5 per cent, although ti showed a slight positive correlation with total haemoglobin only among the Kondhs. Painful crises were universally observed among all tribals with sickle cell disease, with jaundice being present in 57.5 per cent of cases. Some carriers of sickle cell gene also complained of painful crises. A health plan for identifying homozygotes in infancy with appropriate medical management is highly desirable.

Clinical and biochemical studies in homocystinuria.

Homocystinuria was diagnosed in 15 (0.59%) cases on screening 2560 children for aminoacidopathies. The commonest presenting features were ectopia lentis (95%) and mental retardation (86%). Other features included, dental anomalies (40%), osteoporosis (40%), behavioral problems (33%) and arachnodactyly (13%). Diagnosis was confirmed by iodoplatinate staining of one dimensional paper chromatography of urine. All the 15 cases of homocystinuria were first treated with high dose oral pyridoxine. Only one case responded to pyridoxine therapy. All the other patients were started on a low methionine, High cysteine diet with folate supplementation. Only one patient showed a complete response to dietary therapy. Nonavailability and high cost of the commercially available methionine-free, cysteine-supplemented diet and late diagnosis were responsible for the poor response in the majority of our patients.

Sphingomyelinase enzyme assay in Niemann-Pick disease.

Niemann-Pick group of diseases are rare autosomal recessive disorders of lysosomal enzymes. These are divisible into six types depending on clinical and biochemical features. On the basis of sphingomyelinase assay in five cases of Niemann-Pick disease, three cases were classified as type IA, one as type IS and one as type IIS. Their clinicopathological profiles are compared with 17 cases reported previously from India.