The Effect of Blood Transfusion on Growth of Patients with Hb E/ß-Thalassemia.

A retrospective evaluation of growth in 112 patients (68 males, 44 females) with Hb E (HBB: c.79G>A)/ß-thalassemia (ß-thal), classified as 88 transfusion-dependent thalassemia (TDT) and 24 non transfusion-dependent thalassemia (NTDT), is reported. Patients with TDT have received regular transfusions of red blood cells (RBCs) 15 mL/kg every 4 weeks to maintain pre transfusion hemoglobin (Hb) levels of at least 9.0 g/dL and were categorized according to age at initiation of regular RBC transfusion as subgroup 1, <4 years; subgroup 2, 4-10 years, and subgroup 3, >10 years. Iron chelation was initiated at the mean age of 7 years. The results revealed that patients in subgroups 1 and 2, receiving RBC transfusions at a young age (2.9 and 6.9 years, respectively), had normal prepubertal growth at enrollment and last follow-up. Patients in subgroup 3, with the lowest initial height Z-score of -2.10, were able to achieve comparable final adult height as those in subgroups 1 and 2. The mean final height of 21 males and 13 females with TDT at the ages of 18.9 and 18.7 years was 168.1 and 157.7 cm, respectively, which did not significantly differ from their midparental height and those with NTDT. Early initiation of optimal transfusion and iron chelation promoted normal prepubertal growth. However, delayed initiation of transfusion at age 12 years impaired prepubertal growth but they could achieve normal final adult height.

Clinical and hematologic features of beta0-thalassemia (frameshift 41/42 mutation) in Thai patients.

BACKGROUND AND OBJECTIVES: Frameshift 41/42 mutation is the most common mutation of beta0-thalassemia found in Thailand. We studied clinical and hematologic features in 84 patients and relatives with frameshift 41/42 to determine whether it is possible to predict phenotypic severity from genetic factors. DESIGN AND METHODS: The clinical phenotypes and hematologic data of Thai patients with frameshift 41/42 were studied. Alpha-thalassemia, Hb Constant Spring (HbCS) genes and the presence of Xmnl-Ggamma polymorphism were studied in patients who had mild symptoms. RESULTS: Homozygotes for frameshift 41/42 and compound heterozygotes for frameshift 41/42 and beta0-thalassemia produced severe symptoms and have a thalassemia major phenotype. Combination of frameshift 41/42 and beta0-thalassemia or Hb E produced mild to moderate symptoms with thalassemia intermedia phenotype and severe symptoms with thalassemia major phenotype. The co-inheritance of beta-thalassemia or HbCS gene or the presence of Xmnl-Ggamma polymorphism was not associated with mild disease in patients with frameshift 41/42 and HbE. INTERPRETATION AND CONCLUSIONS: The clinical phenotype of homozygotes for frameshift 41/42 and compound heterozygotes for frameshift 41/42 and beta0-thalassemia could be used to predict a severe phenotype with thalassemia major. However, the clinical phenotype of compound heterozygotes of frameshift 41/42 and beta0-thalassemia or Hb E were variable and could not be accurately predicted. Associations between concomitant alpha-thalassemia or HbCS of the presence of Xmnl-Ggamma polymorphism and a mild clinical phenotype are not apparent, indicating the involvement of other ameliorating determinants or genetic modifications.

Hemoglobin E disorders in the north east India.

Clinical and hematological features of nine cases of Hemoglobin E variant were studied prospectively over three years. There were three cases of HbE-beta thalassemia and six cases of homozygous HbE disease. Two cases were asymptomatic. The commonest symptom was jaundice (unconjugated 2). Other symptoms were left hypochondrial pain, tiredness, syncope and failure to thrive. Splenomegaly and microcytosis was detected in all. Mild anaemia was present in majority (6/9), and the mean hemoglobin was 11.3 gm/dl. Reticulocyte count was normal in all and cholelithiasis was seen in one patient only. Clinical and hematological features were evaluated and compared to reported series. Splenomegaly was found to be more common.