title: Hb H (beta4) disease in Cukurova, Southern Turkey.
abstract: In this study, 32 patients with Hb H (beta(4)) disease have been identified. Three different alpha-thalassemia-1 (thal) determinants; nine with the -17.4 kb (MED I) type, 12 with the -20.5 kb type and 10 with the -26.5 kb (MED II) type were characterized. Of the 32 patients, 19 had the 3.7 kb deletion and one had the 4.2 kb deletion in trans to alpha-thal-1 determinants. Only one patient, homozygous for the polyadenylation signal (poly A) site (PA 1) mutation, was identified to be associated with Hb H disease. The other patient had the poly A (PA 1) mutation in trans to the MED I (-17.4 kb) determinant. The 5 nt (nucleotide) deletion was present in three patients, two of them in the same family; this mutation was found in association with the MED II (26.5 kb deletion). The other patient had the -5 nt mutation in trans to the MED I (-17.4 kb) determinant. An unstable hemoglobin (Hb) variant [Hb Adana, codon 59 (CA)] was present in association with the alpha-thal-1 deletion (20.5 kb) in two adults and caused a severe type of Hb H disease. Five patients with Hb H disease had the genotype - -(MED II)/alpha(PA 2)alpha one had a Hb S heterozygosity (- -(MED II)/alpha(PA 2)alpha + Hb AS). A patient with Hb H disease (- -(MED I)/-alpha(3.7)) also had Hb S trait.
authors.affiliation: Department of Biochemistry, Medical Faculty, University of Cukurova, Adana, Turkey. akif@cu.edu.tr
authors.forename: Mehmet Akif
authors.initials: MA
authors.lastname: Cürük
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D005260:Female; D006447:Hemoglobin H / Q000235:genetics*; D006453:Hemoglobinopathies / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012313:RNA / Q000097:blood / Q000235:genetics; D014421:Turkey
chemical_list: D012313:RNA; D006447:Hemoglobin H