Hematological Phenotype of the Double Heterozygous State for Alpha and Beta Thalassemia

Rosatelli, C; Falchi, Angela Maria; Scalas, M T; Tuveri, T; Furbetta, M; Cao, Antonio

doi:10.3109/03630268408996958

Cited by 45 publications

(19 citation statements)

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“…Those individuals resulting positive at this screening test are further investigated by quantitative determination of HbA 2 , which is the most important feature for identifying heterozygous b-thalassemia (Weatherall and Clegg 2001). However, both MCV-MCH determination and especially the one-tube fragility test, may miss those bthalassemia heterozygotes who coinherited athalassemia Rosatelli et al 1984). In carriers of b 0 -thalassemia, the a-thalassemia determinants giving rise to this effect are the deletion of two a-globin genes or one of the nondeletion mutations affecting the major a 2 -globin gene.…”

Section: Carrier Detectionmentioning

confidence: 99%

The Prevention of Thalassemia

Cao

Kan

2013

Cold Spring Harbor Perspectives in Medicine

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The thalassemias are among the most common inherited diseases worldwide, affecting individuals originating from the Mediterranean area, Middle East, Transcaucasia, Central Asia, Indian subcontinent, and Southeast Asia. As the diseases require long-term care, prevention of the homozygous state constitutes a major armament in the management. This article discusses the major prevention programs that are set up in many countries in Europe, Asia, and Australia, often drawing from the experience in Sardinia. These comprehensive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Variability of clinical severity can be attributable to interactions with a-thalassemia and mutations that increase fetal productions. Special methods taht are currently quite expensive and not widely applicable are preimplantation and preconception diagnosis. The recent successful studies of fetal DNA in maternal plasma may allow future prenatal diagnosis that is noninvasive for the fetus.

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Section: Carrier Detectionmentioning

confidence: 99%

The Prevention of Thalassemia

Cao

Kan

2013

Cold Spring Harbor Perspectives in Medicine

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200

157

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“…Double heterozygotes for aand b-thalassaemia are usually diagnosed as pure b-thalassaemia carriers, and a-thalassaemia is generally ignored. [2][3][4] The two thalassaemias vary considerably in their clinical presentations, especially when they exist together. For example, reduction of a-globin synthesis in b-thalassaemia restores globin balance and individuals demonstrate an improved phenotype.…”

Section: Introductionmentioning

confidence: 99%

Co-inheritance of α-thalassaemia and β-thalassaemia in a prenatal screening population in mainland China

Xie

Liao

et al. 2014

J Med Screen

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Objective: To determine the prevalence of a-thalassaemia in b-thalassaemia individuals in a Chinese population. Methods: The standard diagnostic marker for b-thalassaemia was elevation of the Hb A 2 level (>3.5%) with low mean corpuscular volume. The common a-thalassaemia mutations were studied by molecular analysis in all identified b-thalassaemia carriers.Results: A prevalence rate of 3.3% for b-thalassaemia was found in our population; a-and b-thalassaemia interactions were found to co-exist in 17.8% of the b-thalassaemia carriers. The -SEA deletion was the most common a-thalassaemia mutation co-inherited with b-thalassaemia, followed by the -a3.7 deletion, the -a4.2 deletion, Hb Quong Sze, and Hb Constant Spring. Conclusion: Our results suggest that it could be valuable to study co-existing a-globin mutations in subjects with b-thalassaemia trait in a prenatal screening programme, especially in populations with a high prevalence of haemoglobinopathies.

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“…Heterozygous β°-thalassemia with co-inheritance of heterozygous α°-thalassemia (--/αα) show normal MCV and MCH values (Rosatelli et al, 1984). In contrast, patients with coinheritance of deletional HbH (--/-α) disease with heterozygous β-thalassemia show anemia with markedly hypochromic and microcytic red cells and very low MCV and MCH indices (Knox-Macaulay et al, 1972;Ma et al, 2001).…”

Section: Discussionmentioning

confidence: 99%