Probable Homozygous Beta Thalassemia in a Negro Child

Crouch, Earl R.

doi:10.1001/archpedi.1970.02100090130018

Cited by 4 publications

(3 citation statements)

References 27 publications

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“…American Negroes display a milder haematological picture and a more benign course in Negroes with thalassaemia major has been reported previously (Crouch et al, 1970). A more balanced globin chain synthesis in peripheral blood is also reported in Negro as compared with Caucasian subjects with the heterozygous form (Friedman et al, 1973) Weakness was much more evident in females and not always related to the degree of anaemia.…”

Section: Discussionmentioning

confidence: 70%

Clinical and Haematological Data in 254 Cases of Beta‐Thalassaemia Trait in Italy

et al. 1976

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The haematological and clinical data in 254 Italian subjects with beta-thalassaemia trait are reported. 46% of the patients were anaemic, 40% complained of weakness, 19% showed enlargement of the spleen and 10% enlargement of the liver. The haemoglobin levels ranged from 8 to 15.5 g/dl with a normal distribution and a mean of 12.73 for males, 10.93 for females and 11.34 for children (4-15 years). Reticulocyte counts and serum bilirubin levels were slightly increased and both showed a statistically significant relationship with haemoglobin levels. The serum iron level was increased in 27% and decreased in 6% of the cases. Haemoglobin A2 concentrations ranged from 3.5% to 8% with a normal distribution and a mean of 5.37; Hb F values were less than 1% in 36% and varied from 1 to 14% in the remainder. Red cell osmotic fragility was decreased in all but 6% of the subjects: low MCV, MCH and MCHC values were observed in 75%, 86% and 10% respectively. A comparison is made between the data and those obtained by other workers.

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Section: Discussionmentioning

confidence: 70%

Clinical and Haematological Data in 254 Cases of Beta‐Thalassaemia Trait in Italy

et al. 1976

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“…Although Olesen et al (1959) thought that the patients might be heterozygous for ft thalassaemia and hereditary persistence of fetal haemoglobin this now seems unlikely. Mild homozygous ft thalassaemia has been well documented in American Negroes (Scott et al, 1962;Weatherall, 1964;Crouch et al, 1970 [who reviewed 10 similar cases found in the literature] ;Friedman et al, 1972;Braverman et al, 1973). Although, like the present series, these cases have shown considerable variability of clinical disability, there is no doubt that the condition is milder than is seen in Mediterranean races; indeed many cases were asymptomatic and have never required transfusion.…”

Section: Discussionmentioning

confidence: 99%

Homozygous beta thalassaemia in Liberia.

Willcox¹,

Weatherall²,

Clegg³

1975

Journal of Medical Genetics

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Summary. The clinical and haematological findings in 19 Liberians probably homozygous for fi thalassaemia are described. The haemoglobin patterns were similar with Hb F levels in the 30-50% range and a raised level of Hb A2 and, although the clinical severity varied widely, over half the cases were symptomless and even the more severely affected ones showed a milder picture than that found in Mediterranean races. Haemoglobin-synthesis studies carried out on three homozygotes and two heterozygotes indicated a variable degree of globin-chain imbalance. The reasons for the mild course of the disease in Liberians and other African races are discussed; it is likely that the ,B-thalassaemia genes in these populations are different from those in other racial groups. It is noted that all persons in this study belong to tribes which have a low incidence of the sickle-cell gene.

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“…and hemoglobin F (Hb F) are similar in Negro and non-Negro patients with P-thalassemia trait (2)(3)(4). Homozygous fi-thalassemia in the Negro has been reported infrequently with approximately 20 cases appearing in the American literature (5). In general these patients have had a milder clinical disorder than patients with homozygous fi-thalassemia in other racial groups.…”

Section: Introductionmentioning

confidence: 99%

β-Thalassemia in the American Negro

Friedman¹,

Rw²,

Schwartz³

1973

J. Clin. Invest.

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A B S T R A C T In Italian patients with high hemoglobinA2 fl-thalassemia trait, the synthesis of P-chains of adult hemoglobin in the peripheral blood is approximately one-half that of a-chains. In this study the relative rates of f-and a-chain synthesis were determined in 26 Negro heterozygotes and five homozygotes for fi-thalassemia in six families. The 8/a ratio of globin synthesis was decreased in only 15 heterozygotes, whereas in the other 11, fl/a globin synthesis was in the normal range or was slightly increased. These unusual findings did not appear to be due to the presence of a-thalassemia or a hyperactive "normal" fl-allele. This study demonstrates that the f8/a ratio of globin synthesis in the peripheral blood is normal in some patients with

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Probable Homozygous Beta Thalassemia in a Negro Child

Cited by 4 publications

References 27 publications

Clinical and Haematological Data in 254 Cases of Beta‐Thalassaemia Trait in Italy

Clinical and Haematological Data in 254 Cases of Beta‐Thalassaemia Trait in Italy

Homozygous beta thalassaemia in Liberia.

β-Thalassemia in the American Negro

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