title: Hb Alperton [beta135(H13)Ala-->Val] shows decreased oxygen affinity.
abstract: A 14-year-old male child presented with microcytosis, a known alpha(+)-thalassemia (alpha-thal) heterozygote and a hemizygous glucose-6-phosphate dehydrogenase (G6PD) deficiency. Furthermore, cation exchange high performance liquid chromatography (HPLC) revealed an additional peak eluting slightly before Hb A. The peak area of the variant was equal to that of Hb A, suggesting a beta-globin variant. Matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS) analysis confirmed the mutation at the protein level. The variant was detectable by isoelectric focusing (IEF) or by reversed phase HPLC. DNA sequencing revealed a heterozygous mutation at codon 135 of the beta gene, already described as Hb Alperton. Hb Alperton showed decreased oxygen affinity. Neither biochemical nor clinical characteristics for Hb Alperton have been reported so far.
authors: Division of Haematology, University Children's Hospital, CH-8032 Zürich, Switzerland.
authors: Karin
authors: K
authors: Zurbriggen
authors: Marlis
authors: M
authors: Schmid
authors: Markus
authors: M
authors: Schmugge
authors: Heinz
authors: H
authors: Troxler
authors: Oliver
authors: O
authors: Speer
mesh_terms: D000293:Adolescent; D019298:Glucose-6-Phosphate / Q000172:deficiency; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010100:Oxygen / Q000378:metabolism*; D017422:Sequence Analysis, DNA; D017085:alpha-Thalassemia / Q000235:genetics / Q000378:metabolism; D055544:beta-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C547656:hemoglobin Alperton; D019298:Glucose-6-Phosphate; D010100:Oxygen