title: Haemoglobin D Punjab. Interaction with alpha thalassaemia and diagnosis by gene mapping.
abstract: A family which illustrates the inheritance of Hb D Punjab (a beta globin chain variant) and alpha thalassaemia is described. Interaction between Hb D Punjab and alpha thalassaemia is observed since levels of Hb D vary according to the number of alpha globin genes deleted. The technique of gene mapping has been utilised in the current study to provide definitive evidence of alpha thalassaemia and also demonstrates a novel way to identify Hb D Punjab.
mesh_terms: D000328:Adult; D000368:Aged; D001797:Blood Protein Electrophoresis; D002648:Child; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D005260:Female; D005796:Genes; D006580:Genetic Carrier Screening; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013789:Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C026237:hemoglobin D Punjab; D004262:DNA Restriction Enzymes