Background: &beta-thalassemia is the most common monogenic disorder in human. The (CT) polymorphism at -158 upstream region of the &gammaG-globin gene and pharmacological factors such as hydroxyurea have been reported to influence &gamma-globin gene expression and the severity of clinical symptoms of &beta-thalassemia. Methods: In the present study, 51 &beta-thalassemia intermediate patients w...

BACKGROUND AND AIM Both thalassemia and carnitine deficiency represent independent causes of erythropoietin resistance, and thus anemia, in uremic patients. We evaluated the unknown long-term effects of L-carnitine administration in β-thalassemic on chronic hemodialysis. METHODS We studied twelve subjects (M = 8; F = 4) affected by β-thalassemia minor (β-thal; HbA2 level = 6.6 ± 0.6%) and for...

The early identification of some clinically significant hemoglobinopathies and precise differentiation of hemoglobin variants are important to provide early comprehensive medical care to prevent some serious complications, assess prognosis and offer genetic counseling. A prospective study of 500 infants from South Western Maharashtra showed that 0.4% (4 in 1000) of them had detectable levels of...

Hemoglobin (Hb) A2' is a hematologically silent variant of HbA2 that is detected easily by high-performance liquid chromatography (HPLC), where it elutes in the S window. Our purposes were to define diagnostic criteria for the HbA2' trait using the Variant II (Bio-Rad, Hercules, CA) and to determine the prevalence of HbA2' in a metropolitan patient population. All Hb screens (N = 5,862) perform...

Butyrate analogues have been shown to increase fetal hemoglobin (HbF) production in vitro and in vivo. Sodium phenylbutyrate (SPB), an oral agent used to treat individuals with urea-cycle disorders, has been shown to increase HbF in nonanemic individuals and in individuals with sickle cell disease. We have treated eleven patients with homozygous beta thalassemia (three transfusion dependent) an...

Patients with thalassemia major are considered to have high erythropoietin (Epo) activity.' However, Hammond et a1 reported that thalassemic patients had much less serum Epo activity compared with patients with hypoplastic anemia.* Determination of serum Epo levels in 32 patients from our clinic with homozygous p-thalassemia major and intermedia showed that Epo activity was not significantly hi...

Dear Editor, A 33-yr-old Thai woman visited Wonkwang University Sanbon Hospital, Korea, with chief complaints of fatigue and dizziness. Peripheral blood smear examination revealed microcytic hypochromic anemia with target cells (Fig. 1). Routine laboratory analysis results were within normal limits (bilirubin, haptoglobin, reticulocyte, lactate dehydrogenase, iron, total iron binding capacity, ...