Hemoglobin (Hb) A2 ( 2 2) constitutes less than 3% of the total hemoglobin (Hb) in adults and has almost no physiological importance.1 On the other hand, the determination of Hb A2 is an important tool to diagnose the beta-thalassemia trait (BTT).1,2 Although individuals with BTT do not need treatment, the accurate detection of the carrier state is important in genetic counseling to determine r...

Clinical data suggest that in beta-thalassemia-intermedia patients, higher levels of circulating fetal hemoglobin (HbF) are associated with greater disease severity at comparable degrees of anemia. We assessed the influence of the amount of circulating HbF on serum erythropoietin (s-Epo) levels and on serum transferrin receptor, a measure of erythropoiesis, in 30 beta-thalassemia-intermedia pat...

BACKGROUND Hemoglobin Constant Spring (Hb CS) is an abnormal Hb caused by a mutation at the termination codon of α2-globin gene found commonly among Southeast Asian and Chinese people. Association of Hb CS with α°-thalassemia leads to a thalassemia intermedia syndrome commonly encountered in the region. We report chromosome background and addressed genetic origins of Hb CS observed in a large c...

Both the clinical course and molecular alterations of sickle cell anemia (Hb SS) are highly distinct. Possible modulators of phenotypical variability have been documented, including alpha-thalassemia and beta S-globin gene cluster haplotypes. (1) The possible benefits of alpha thalassemia co-inheritance also affect hematological parameters. (2) The Hb S intra-cellular concentration seems to pre...

background: hb a2 is elevated in subjects with beta thalassemia minor but small percent of carriers have normal hb a2 with elevated levels of hbf (2-10%). this type of thalassemia is called delta beta thalassemia, and can be missed in pre-marriage hematologic consults or screening which leads to increased risk of child birth with beta thalassemia major. materials and methods: in this prospectiv...

Thalassemia and other structural haemoglobinopathies are the major erythrocyte formation disorder prevalent in certain parts of the world including Bangladesh. We investigated 600 cases of anaemic patients referred from various parts of the country for diagnosis and counselling during 3 months (April to June 2011) of time. The most common form of haemoglobin (Hb) formation disorder observed in ...

Hemoglobin (Hb) Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a non-deletional α-thalassemia variant found in Malaysia. An improvement in the molecular techniques in recent years has made identification of Hb Adana much easier. For this study, a total of 26 Hb Adana α-thalassemia intermedia and 10 Hb Adana trait blood samples were collected from patients. Common deletional and non-deletional α...

References 1. Weatherall DJ. The thalassemias. In: Stamatoyannopoulos G, Majerus PW, Perlmutter RM, Varmus H, eds. The molecular basis of blood diseases, Vol. 3. Philadelphia: WB Saunders, 2001:183–226. 2. Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood 2003;101:791–800. 3. Lemmens-Zygulska M, Eigel A, Helbig B, Sanguansermsri T, Horst J, Flatz G. Pr...

We identified two new variants in the third exon of the α-globin gene in families from southern Italy: the Hb Rogliano, α1 cod108 ACC>AAC or α1[α108(G15)Thr→Asn] and the Hb Policoro, α2 cod124 TCC>CCC or α2[α124(H7)Ser→Pro]. The carriers showed mild α-thalassemia phenotype and abnormal hemoglobin stability features. These mutations occurred in the G and H helices of the α-globin both involved i...

Hemoglobinopathies are the most common single gene disorders worldwide with a considerable frequency in certain area particularly Mediterranean and Middle Eastern countries. Hemoglobinopathies include structural variants of hemoglobin (Hb S, Hb C, HbE,…) and thalassaemias which are inherited defects in the globin chains synthesis. The present study was conducted to determine the prevalence of h...