Niemann-Pick disease in association with homozygous hemoglobin E: a case report.
The first case of Niemann-Pick disease Type A in a Thai infant was reported. The patient also had abnormal hemoglobin E. The diagnosis was based on the clinical features, bone marrow findings and sphingomyelinase levels in the culture of skin fibroblasts. The autosomal recessive mode of inheritance was confirmed in this case.
D001856:Bone Marrow Examination; D005260:Female; D006446:Hemoglobin E; D006455:Hemoglobins, Abnormal; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D009542:Niemann-Pick Diseases / Q000097:blood* / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D012867:Skin / Q000201:enzymology; D013108:Sphingomyelin Phosphodiesterase / Q000378:metabolism; D013163:Splenomegaly / Q000209:etiology
D006455:Hemoglobins, Abnormal; D006446:Hemoglobin E; D013108:Sphingomyelin Phosphodiesterase