title: Sickle cell anemia and α-thalassemia: a modulating factor in homozygous HbS/S patients in Oman.
abstract: We report the general phenotype severity and the hematological presentation in a cohort of 125 sickle cell anemia (SCA) patients with identical homozygous HbS/S genotype and categorized by identical β(S) haplotype, both with and without alpha thalassemia. No clear general phenotype correlation was found when patients were compared regardless of the haplotype but overall, patients with homozygous alpha thalassemia (α-/α-) had the highest Hb, HCT, RBC and the lowest MCV, MCH and MCHC levels. When patients with identical haplotype were compared, the mildest hematological and clinical conditions were observed in patients of the Asian/Asian haplotype, also known as Arab-Indian haplotype, and carriers of α-thalassemia, suggesting an additional ameliorating effect of alpha thalassemia. In conclusion, our results show that alpha thalassemia improves the hematological conditions but amelioration of the general disease severity is only noticed when compared in cohorts of the same haplotype.
authors.affiliation: Molecular Genetic Laboratory, Genetic Centre, Muscat, Oman; The Reference Hemoglobinopathies Laboratory, Dept. of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. Electronic address: suha_85@hotmail.com.
authors.forename: S M
authors.initials: SM
authors.lastname: Hassan
authors.affiliation: Royal Hospital, Muscat, Oman.
authors.forename: M
authors.initials: M
authors.lastname: Al Muslahi
authors.affiliation: Royal Hospital, Muscat, Oman.
authors.forename: M
authors.initials: M
authors.lastname: Al Riyami
authors.affiliation: The Reference Hemoglobinopathies Laboratory, Dept. of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.affiliation: The Reference Hemoglobinopathies Laboratory, Dept. of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: C L
authors.initials: CL
authors.lastname: Harteveld
authors.affiliation: The Reference Hemoglobinopathies Laboratory, Dept. of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: P C
authors.initials: PC
authors.lastname: Giordano
mesh_terms: D000755:Anemia, Sickle Cell / Q000235:genetics* / Q000473:pathology; D006239:Haplotypes; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D009850:Oman; D012720:Severity of Illness Index; D017085:alpha-Thalassemia / Q000235:genetics / Q000473:pathology*
chemical_list: D006451:Hemoglobin, Sickle
keywords: Sickle cell anemia; α-thalassemia; β(S) haplotype