Literature DB >> 745216

Thalassaemia of intermediate severity resulting from the interaction between alpha- and beta-thalassaemia.

S Musumeci, G Schilirò, G Pizzarelli, A Fischer, G Russo.   

Abstract

A Sicilian family is described in which the alpha-thalassaemia gene is interacting in several members with beta-thalassaemia resulting in a balanced alpha/beta chain production ratio. In one patient, affected by homozygous beta-thalassaemia, the presence of alpha-thalassaemia resulted in a less severe clinical expression of the disease, less marked imbalance in the alpha/non-alpha ratio, and a lower level of HbF. Further studies of haemoglobin synthesis are needed to clarify the complex genetic picture that results from the interaction of different forms of thalassaemia.

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Year:  1978        PMID: 745216      PMCID: PMC1013760          DOI: 10.1136/jmg.15.6.448

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  8 in total

1.  A possible case of alpha-beta thalassaemia.

Authors:  L BERNINI; C F COLUCCI; D DE MICHELE; S PIOMELLI; M SINISCALCO
Journal:  Acta Genet Stat Med       Date:  1962

2.  THE OSMOTIC RESISTANCE (FRAGILITY) OF HUMAN RED CELLS.

Authors:  A K Parpart; P B Lorenz; E R Parpart; J R Gregg; A M Chase
Journal:  J Clin Invest       Date:  1947-07       Impact factor: 14.808

3.  The clinical and biosynthetic characterization of -thalassaemia.

Authors:  H H Knox-Macaulay; D J Weatherall; J B Clegg; J Bradley; M J Brown
Journal:  Br J Haematol       Date:  1972-04       Impact factor: 6.998

4.  Alpha- and beta-thalassemia in Thailand.

Authors:  P Wasi; S Na-Nakorn; S Pootrakul; M Sookanek; P Disthasongchan; V Panich; M Pornpatkul
Journal:  Ann N Y Acad Sci       Date:  1969-11-20       Impact factor: 5.691

5.  Alpha-beta thalassemia disease in a Negro family.

Authors:  H A Pearson
Journal:  N Engl J Med       Date:  1966-07-28       Impact factor: 91.245

6.  Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok).

Authors:  J B Clegg; M A Naughton; D J Weatherball
Journal:  J Mol Biol       Date:  1966-08       Impact factor: 5.469

7.  Mild thalassemia: the result of interactions of alpha and beta thalassemia genes.

Authors:  Y W Kan; D G Nathan
Journal:  J Clin Invest       Date:  1970-04       Impact factor: 14.808

8.  -thalassemia in the American Negro.

Authors:  E Schwartz; J Atwater
Journal:  J Clin Invest       Date:  1972-02       Impact factor: 14.808

  8 in total

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