title: Morbidity, beta S haplotype and alpha-globin gene patterns among sickle cell anemia patients in Kuwait.
abstract: Admission records of children with sickle cell anemia (SS), in the two main teaching hospitals in Kuwait, were reviewed for a 1-year period. The haplotypes of 92 beta s chromosomes (from 39 SS, 11 AS, 2 S beta-thalassemia [S beta-thal] and 1 SD individuals) were determined using an allele-specific oligonucleotide (ASO) hybridization technique, while the alpha-globin gene status of 27 SS and 33 AS individuals, i.e. 120 chromosomes, was determined with a combination of polymerase chain reaction and AS techniques. A vasooclusive crisis was the most common (60.0%) cause of hospitalization, followed by infections (20%). Hospital admissions were most common during the hottest month of the year (July). Few complications of the disease were seen among patients on follow-up; however, splenomegaly was present in 24.0%, hepatomegaly in 15.2%, gallstones in 15.2% and aseptic necrosis of the femoral head in 6.1%. Haplotype 31 (Saudi Arabia/India) is the most frequent in this community, being present in 80.4% of the chromosomes tested; Benin haplotype 19 was found in 12.0% and Bantu haplotype 20 in 6.5%. Hb F in the haplotype 31 homozygotes and heterozygotes ranged from 11.4 to 35.1% (mean 22.5 +/- 5.2%). The frequency of alpha-thal determinants in the study was 40.0%, the commonest being the -alpha 3.7-kb deletion (27.5%), the alpha 2 polyadenylation signal (AATAAA-> AATAAG) mutation (10.2%) and the IVS-I 5' end GAGGT-GAGG->GAGG pentanucleotide (5 nt) deletion (3.3%). SS patients with coexistent alpha-thal trait did not have severe recurrent infections and none had gallstones. The high frequencies of the Saudi Arabia/India beta s haplotype and alpha-thalassemia trait contribute to the mild nature of SS disease among Kuwaiti Arabs comparable to that in eastern Saudi Arabia.
authors.affiliation: Department of Paediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.
authors.forename: A D
authors.initials: AD
authors.lastname: Adekile
authors.forename: M Z
authors.initials: MZ
authors.lastname: Haider
mesh_terms: D000755:Anemia, Sickle Cell / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007730:Kuwait; D008297:Male; D017085:alpha-Thalassemia / Q000150:complications
chemical_list: D005914:Globins