Abstract
Objectives: In the Arabian Gulf region, hemoglobin (Hb) H disease usually results from homozygosity or compound heterozygosity involving the α<sub>2</sub>-globin gene polyadenylation (poly A) signal (AATAAA→AATAAG) mutation (α<sup>T</sup>α). Here we document the clinical and hemato logical characteristics of children with Hb H disease being followed in Kuwait. Subjects and Methods: Twenty-four patients (0.5–12 years old, mean 4.7 ± 3.5 years) with persistent microcytic, hypochromic anemia (and normal iron status as well as normal Hb A<sub>2</sub> levels) were referred to the pediatric hematology clinic for further investigations. They were all screened for the α<sup>+</sup>-thalassemia (α<sup>+</sup>-thal; –3.7 kb) deletion using a standard PCR method. They were also screened for the α<sub>2</sub>-globin gene α<sup>T</sup>α allele and the 5nt deletion (–α<sup>5nt</sup>) in the first intervening sequence, which are common α-thal alleles in this population. They were followed up for periods ranging from 2 to 8 years. Results: Of the 24 patients, 4 (16.7%) also had sickle cell trait (Hb-AS), while 7 (29.2%) were glucose-6-phosphate dehydrogenase deficient. Only 1 patient had significant hepatosplenomegaly and 1 developed gallstones. While none was on chronic transfusion therapy, 8 (33.3%) had been transfused at least once and, in 3 instances, this was secondary to parvovirus B19 +ve aplastic crisis. The α-globin genotype was successfully determined in almost all patients. The results showed that 17 (70.8%) patients were homozygous for the poly A mutation (α<sup>T</sup>α/α<sup>T</sup>α), 6 (25.0%) were compound heterozygotes for this and the α<sup>+</sup>-thal (–3.7 kb) deletion (–α/α<sup>T</sup>α) and 1 (4.2%) was undetermined. There were no significant differences in the phenotypes of the 2 genotypes and their hematological features were identical. Conclusions: Hb H disease involving the poly A mutation is a mild thal intermedia phenotype among Kuwaitis. There are no serious complications and there is no need for regular blood transfusion.
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