{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T17:00:23Z","timestamp":1758474023395,"version":"3.40.4"},"reference-count":18,"publisher":"S. Karger AG","issue":"Suppl. 1","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Princ Pract"],"published-print":{"date-parts":[[2005]]},"abstract":"<i>Objectives:<\/i> In the Arabian Gulf region, hemoglobin (Hb) H disease usually results from homozygosity or compound heterozygosity involving the \u03b1<sub>2<\/sub>-globin gene polyadenylation (poly A) signal (AATAAA\u2192AATAAG) mutation (\u03b1<sup>T<\/sup>\u03b1). Here we document the clinical and hemato logical characteristics of children with Hb H disease being followed in Kuwait. <i>Subjects and Methods:<\/i> Twenty-four patients (0.5\u201312 years old, mean 4.7 \u00b1 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 \u03b1<sup>+<\/sup>-thalassemia (\u03b1<sup>+<\/sup>-thal; \u20133.7 kb) deletion using a standard PCR method. They were also screened for the \u03b1<sub>2<\/sub>-globin gene \u03b1<sup>T<\/sup>\u03b1 allele and the 5nt deletion (\u2013\u03b1<sup>5nt<\/sup>) in the first intervening sequence, which are common \u03b1-thal alleles in this population. They were followed up for periods ranging from 2 to 8 years. <i>Results:<\/i> 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 \u03b1-globin genotype was successfully determined in almost all patients. The results showed that 17 (70.8%) patients were homozygous for the poly A mutation (\u03b1<sup>T<\/sup>\u03b1\/\u03b1<sup>T<\/sup>\u03b1), 6 (25.0%) were compound heterozygotes for this and the \u03b1<sup>+<\/sup>-thal (\u20133.7 kb) deletion (\u2013\u03b1\/\u03b1<sup>T<\/sup>\u03b1) and 1 (4.2%) was undetermined. There were no significant differences in the phenotypes of the 2 genotypes and their hematological features were identical. <i>Conclusions:<\/i> 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.<\/jats:p>","DOI":"10.1159\/000086187","type":"journal-article","created":{"date-parts":[[2005,8,17]],"date-time":"2005-08-17T12:50:22Z","timestamp":1124283022000},"page":"73-76","source":"Crossref","is-referenced-by-count":12,"title":["Alpha-2-Globin Gene Polyadenylation (AATAAA\u2192AATAAG) Mutation in Hemoglobin H Disease among Kuwaitis"],"prefix":"10.1159","volume":"14","author":[{"given":"M.","family":"Haider","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Adekile","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,7,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM198012113032402"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002%2Fajh.2830450405"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1159%2F000206947"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.23.3.245"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1159%2F000040863"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1159%2F000204216"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159%2F000203753"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2141.1979.tb03774.x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3109%2F03630268208996930"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002%2Fajh.2830460309"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.78.8.5041"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.3109%2F03630269708997389"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1097%2F01.inf.0000101783.73240.4a"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2141.1980.tb08709.x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.3109%2F03630269809092140"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI109539"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002%2Fajh.2830450402"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.3109%2F03630269609027906"}],"container-title":["Medical Principles and Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/86187","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/86187","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:10:07Z","timestamp":1745464207000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000086187"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005]]},"references-count":18,"journal-issue":{"issue":"Suppl. 1","published-online":{"date-parts":[[2005,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000086187","archive":["Portico"],"relation":{},"ISSN":["1011-7571","1423-0151"],"issn-type":[{"type":"print","value":"1011-7571"},{"type":"electronic","value":"1423-0151"}],"subject":[],"published":{"date-parts":[[2005]]}}}