title: Molecular characterization of HbH disease in the Cuban population.
abstract: Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects carrying the - alpha 3.7 type I/--SEA genotype. Variations are observed in the size of the zeta polymorphic fragments.
mesh_terms: D003462:Cuba; D004262:DNA Restriction Enzymes; D006447:Hemoglobin H / Q000032:analysis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D011110:Polymorphism, Genetic; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D006447:Hemoglobin H; D004262:DNA Restriction Enzymes