The Thalassemias and Related Disorders

Marengo-Rowe, Alain J.

doi:10.1080/08998280.2007.11928230

Cited by 84 publications

(74 citation statements)

References 40 publications

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“…b-Thal major is characterized by completely inhibited synthesis of beta chains [4] so b-Thal major must be treated (generally transfusion therapy) otherwise 85 % of patients die in early childhood due to severe anemia [5]. b-Thal major phenotype has homozygotes or compound heterozygotes for b o or b ?…”

Section: Introductionmentioning

confidence: 99%

Novel Βeta (β)-Thalassemia Mutation in Turkish Children

Ulaşlı

Öztuzcu

Kirkbes

et al. 2014

Indian J Hematol Blood Transfus

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Section: Introductionmentioning

confidence: 99%

Novel Βeta (β)-Thalassemia Mutation in Turkish Children

Ulaşlı

Öztuzcu

Kirkbes

et al. 2014

Indian J Hematol Blood Transfus

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“…a-and b-thalassaemia occur when there is a reduction in a-globin chains and b-globin chains, respectively. 11,12 Programmes offering screening for b-thalassaemia heterozygotes (carrier screening) have been available for many years. 4,13 The majority of b-thalassaemia carriers have reduced mean corpuscular volume and mean corpuscular haemoglobin levels in the standard full blood examination (FBE).…”

Section: Introductionmentioning

confidence: 99%

Carrier screening for Beta-thalassaemia: a review of international practice

et al. 2010

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b-thalassaemia is one of the most common single-gene inherited conditions in the world, and thalassaemia carrier screening is the most widely performed genetic screening test, occurring in many different countries. b-thalassaemia carrier screening programmes provide a unique opportunity to compare the delivery of carrier screening programmes carried out in different cultural, religious and social contexts. This review compares the key characteristics of b-thalassaemia carrier screening programmes implemented in countries across the world so that the differences and similarities between the programmes can be assessed. The manner in which thalassaemia carrier screening programmes are structured among different populations varies greatly in several aspects, including whether the programmes are mandatory or voluntary, the education and counselling provided and whether screening is offered pre-pregnancy or antenatally. National and international guidelines make recommendations on the most appropriate ways in which genetic carrier screening programmes should be conducted; however, these recommendations are not followed in many programmes. We discuss the implications for the ethical and acceptable implementation of population carrier screening and identify a paucity of research into the outcomes of thalassaemia screening programmes, despite the fact that thalassaemia screening is so commonly conducted.

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“…The HbF consists of two α-and two γ-globin chains. Postpartum, after the age of 6 months, very low levels of HbF (<2%) are observed in the blood, 7 due to the reduced production of γ-chains prior to birth. On the contrary, the concentration of β-chain progressively reaches from low level in early intrauterine life to a high proportion by the end of the third trimester and also persists into neonatal and adult life.…”

Section: Intrauterine Development Of Hemoglobinmentioning

confidence: 99%

“…All over the adult life, production of delta chains remains at a low level (<3%). 7 During the course of normal fetal development, all embryonic Hbs are superseded by the production of HbF (approximately 80%), which gets further swapped by the adult Hbs, HbA (2 alpha chains and 2 beta chains) and HbA2 (2 alpha chains and 2 delta chains). 8 The developmental changes occurring in the production of human globin chain has been well illustrated in Graph 1.…”

Section: Intrauterine Development Of Hemoglobinmentioning

confidence: 99%

“…7 Reduced production of α-chain because of removal of at least one of the α-globin chain loci gives rise to α-thalassemia. [13][14][15] Based on the number of genes affected (Table 1), α-thalassemia has been classified into four types: (1) Hb Bart's hydrops; (2) HbH disease; (3) α-thalassemia + trait; (4) silent carrier or α-thalassemia minima (minor).…”

Section: Alpha-thalassemiamentioning

confidence: 99%

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