Adekile Adekunle D, Azab Asma F, Al-Sharida Sondus I, Al-Nafisi Bahia A, Akbulut Nagihan, Marouf Rajaa A, Mustafa Nada Y
a Department of Pediatrics, Faculty of Medicine , Kuwait University , Jabriya , Kuwait.
Hemoglobin. 2015;39(5):320-6. doi: 10.3109/03630269.2015.1053489. Epub 2015 Jun 15.
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.
尽管非输血依赖型地中海贫血（NTDT）患者并非定期输血，但他们容易出现铁过载及其并发症。其分子、表型和实验室特征在不同人群中存在差异，因此有必要记录当地的流行模式。我们回顾了科威特NTDT患者的病历，并记录了他们的临床和分子特征，以及铁状态[血清铁蛋白和肝脏磁共振成像（MRI）T2*]、治疗情况和并发症。共有41例患者，其中20例为中间型β地中海贫血（β-TI），18例为血红蛋白H（β4）病，3例为血红蛋白E（HBB：c.79G＞A）-β地中海贫血（Hb E-β地贫）；年龄范围为3至36岁（平均12.5±7.7岁）。虽然18例（43.9%）患者至少接受过一次输血，但只有3例（7.3%）接受过多次输血。3例患者血清铁蛋白>500 ng/mL；38例中有4例存在轻度或中度肝脏铁过载。7例（占35.0%）β-TI患者接受羟基脲（HU）治疗，反应良好。其他并发症包括5例胆结石患者、1例甲状腺功能减退患者和1例烟雾病患者。β-TI患者中最常见的突变是IVS-II-1（G＞A）和IVS-I-6（T＞C），而在血红蛋白H患者中，沙特α2-珠蛋白基因多聚腺苷酸化（polyA）（AATAAA＞AATAAG）突变导致了所有病例，这些病例要么是纯合子（61.1%），要么是与α-珠蛋白生成障碍性贫血2（-α(3.7)）等位基因的复合杂合子（33.3%）。尽管科威特患者的NTDT模式总体较轻，但仍有必要对他们进行随访直至成年，因为并发症具有累积性且在该群体中更为普遍。
