One excellent illustration of how a single gene abnormality may result in a spectrum of
disease incidence is the incredible phenotypic variety of β-thalassemia, which spans from …

It is generally believed that β-thalassaemia is rare in sub-Saharan Africa; however, in
studies conducted in Kilifi, we recently observed HbA2 levels within the diagnostic range for …

An analysis of genotype-phenotype correlation was performed for 14 patients with beta-
thalassemia who had been registered in Referral Centre for hematology and oncology of the …

Extramedullary hematopoiesis (EMH) results from the extension of hematopoietic tissue
beyond the confines of the bones. Since the initiation of regular transfusion programs from …

The mutation detection of β thalassemia is absolutely necessary for molecular diagnosis, as
well as any genetic epidemiological study. The β globin gene has 3 exons and 2 introns …

Haemoglobinopathies are very serious clinical conditions caused by genetic mutations.
They belong to autosomal recessive disorders and the most frequent genetic inherited …

We report the hematological data of the codon 7 (G AG> T AG (HBB: c. 22G> T) mutation for
the first time in two Albanian individuals from the region of Elbasan, who underwent genetic …

Abstract Background IVSII-74 T> G is one of the most frequently identified polymorphic sites
on the β-globin gene. In our report, we present three cases with low mean corpuscular …

The β-thalassemia syndromes (major and intermedia) are caused by mutations that result in
the reduced or non-production of beta-globin chains. More than 300 diseasecausing …

Albania is affected by thalassemia and hemoglobin disorders. Chronic transfusion therapy
plays an important role in the management of them but, inevitably leads to iron overload …