title: Clinical and Molecular Characteristics of Non-Transfusion-Dependent Thalassemia in Kuwait.
abstract: Although not regularly transfused, patients with non-transfusion-dependent thalassemia (NTDT) are prone to iron overload and its complications. Their molecular, phenotypical and laboratory characteristics vary in different populations and there is a need to document local prevailing patterns. We have reviewed the records of our patients with NTDT in Kuwait and documented their clinical and molecular characteristics in addition to iron status [serum ferritin and liver magnetic resonance imaging (MRI) T2*], management and complications. There were 41 patients, made up of 20 with β-thalassemia intermedia (β-TI), 18 with Hb H (β4) disease and three with Hb E (HBB: c.79G > A)-β-thalassemia (Hb E-β-thal); their ages ranged from 3 to 36 years (mean 12.5 ± 7.7). While 18 (43.9%) had been transfused at least once, only three (7.3%) had been transfused on multiple occasions. Three patients had serum ferritin >500 ng/mL; while four of 38 had mild or moderate liver iron overload. Seven (35.0%) of the β-TI patients were managed with hydroxyurea (HU) with good response. Other complications included five patients with gallstones and one each of hypothyroidism and moyamoya. The most common mutations among the β-TI patients were IVS-II-1 (G > A) and IVS-I-6 (T > C), while among the Hb H patients, the Saudi α2-globin gene polyadenylation (polyA) (AATAAA > AATAAG) mutation was responsible for all cases either as homozygotes (61.1%) or compound heterozygotes with the α-thal-2 (-α(3.7)) allele (33.3%). Although the pattern of NTDT in Kuwaiti patients is generally mild, there is a need to follow them to adulthood as the complications are cumulative and more prevalent in this group.
authors.affiliation: a Department of Pediatrics, Faculty of Medicine , Kuwait University , Jabriya , Kuwait.
authors.forename: Adekunle D
authors.initials: AD
authors.lastname: Adekile
authors.forename: Asma F
authors.initials: AF
authors.lastname: Azab
authors.forename: Sondus I
authors.initials: SI
authors.lastname: Al-Sharida
authors.forename: Bahia A
authors.initials: BA
authors.lastname: Al-Nafisi
authors.forename: Nagihan
authors.initials: N
authors.lastname: Akbulut
authors.forename: Rajaa A
authors.initials: RA
authors.lastname: Marouf
authors.forename: Nada Y
authors.initials: NY
authors.lastname: Mustafa
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004909:Erythrocyte Indices; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics / Q000378:metabolism; D006446:Hemoglobin E / Q000235:genetics / Q000378:metabolism; D006447:Hemoglobin H / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007730:Kuwait; D008297:Male; D009154:Mutation; D013789:Thalassemia / Q000097:blood* / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics / Q000378:metabolism; D055544:beta-Globins / Q000235:genetics / Q000378:metabolism
chemical_list: D055542:alpha-Globins; D055544:beta-Globins; D006446:Hemoglobin E; D005319:Fetal Hemoglobin; D006447:Hemoglobin H
keywords: Hb E-β-thalassemia (Hb E-β-thal); Hb H (β4); Kuwait; non-transfusion-dependent thalassemia (NTDT); β-Thalassemia intermedia (β-TI)