Abstract |
1. Clinical, hematological, genetic and peripheral blood globin synthesis studies were carried out on 17 symptomatic Brazilian thalassemics and their parents who live in the northeast of São Paulo State. The group included 8 beta zero- thalassemia homozygotes, 7 carriers of at least one beta + gene, one delta beta zero/beta zero- thalassemia double heterozygote and one beta zero homozygote also carrying the alpha-chain variant Hb Hasharon (alpha 2(47) His beta 2). 2. The mean non-alpha/alpha ratio for globin biosynthesis of the patients lacking HbA (beta zero homozygotes and delta beta zero/beta zero double heterozygotes) was 0.26 +/- 0.11 (mean +/- SD), which is not statistically different from the value of 0.32 +/- 0.06 obtained for the carriers of at least one beta + gene. In contrast, the mean non-alpha/alpha ratio for the thalassemia major patients (0.22 +/- 0.07) was significantly lower than that obtained for the milder cases (0.34 +/- 0.06) although the beta/alpha ratios for the parents of the two groups were similar. 3. The heterogeneity within this group of Brazilian patients having two thalassemic genes, i.e. 60% who are beta zero homozygotes and 40% who are carriers of at least one beta + gene, is consistent with the Italian origin of most of these patients.
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Authors | M A Zago, F Costa, C Bottura |
Journal | Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas
(Braz J Med Biol Res)
Vol. 14
Issue 6
Pg. 383-8
(Dec 1981)
ISSN: 0100-879X [Print] Brazil |
PMID | 6086110
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Hemoglobins, Abnormal
- hemoglobin Sealy
- Globins
- Hemoglobin A2
- Fetal Hemoglobin
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Topics |
- Adolescent
- Adult
- Brazil
(epidemiology)
- Child
- Female
- Fetal Hemoglobin
(analysis)
- Genotype
- Globins
(biosynthesis, genetics)
- Hemoglobin A2
(analysis)
- Hemoglobins, Abnormal
(genetics)
- Humans
- Italy
(ethnology)
- Male
- alpha-Thalassemia
(genetics)
- beta-Thalassemia
(blood, epidemiology, ethnology, genetics)
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