Preliminary surveys for the prevalence of the thalassaemia genes in some African populations

Weatherall, D. J.; Gilles, H. M.; Clegg, J. B.; Blankson, J. A.; Mustafa, D.; Boi-Doku, F. S.; Chaudhury, Debasish

doi:10.1080/00034983.1971.11686752

Cited by 40 publications

(23 citation statements)

References 14 publications

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“…A diagnosis of P-thalassemia required findings of HbA 2 level 3.5 or higher, anemia, relative erythrocytosis, and microcytosis less than 70 fL. 9,10 Persons with normal Hb were classified into various age groups (1 year or younger, 5 months or younger, 6 months to 1 year, 2 years or younger, 1 to 2 years, 1 year or older, and 2 years or older), and mean values were determined and compared using the z test for equality of means. Based on the ability to classify the normal group aged younger than 1 year to 1 year or older, mean values of sickle cell trait, sickle cell anemia, and P-thalassemia in those 1 year or older were compared with normal values and with each other using the z test for equality of means.…”

Section: Methodsmentioning

confidence: 99%

Hemoglobin A₂Levels in Healthy Persons, Sickle Cell Disease, Sickle Cell Trait, and β-Thalassemia by Capillary Isoelectric Focusing

et al. 1997

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Simultaneously measuring major and minor hemoglobin (Hb) variants by capillary isoelective focusing, we obtained HbA 2 intervals in healthy volunteers (n = 412) (reference value) and patients with HbS or ({-thalassemia. We classified normal HbA 2 reference intervals into three age groups: 5 months or younger (1.2% ± 1.5%), 6 months to 1 year (2.2% ± 0.9%), and 1 year or older (2.4% ± 0.9%). These intervals were comparable to those used with other methods. Patients 1 year of age or older with HbS had significantly higher HbA 2 levels (sickle cell trait, 2.9% ± 0.9%; sickle cell anemia, 2.8% ± 1.0%; P<.05). Although reference HbA 2 intervals overlapped those in patients with HbS, no overlap in HbA 2 levels was noted between these groups and patients with ^-thalassemia (observed range, 4.3% to 7.5%). The higher than normal HbA 2 interval in patients with HbS must be considered before a diagnosis of sickle cell trait or sickle cell disease with fi-thalassemia is made. (Key words: Capillary isoelectric focusing; Hemoglobin A 2 ; Hemoglobin S; Reference intervals; PThalassemia) Am J Clin Pathol 1997;107:88-91.

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Section: Methodsmentioning

confidence: 99%

Hemoglobin A₂Levels in Healthy Persons, Sickle Cell Disease, Sickle Cell Trait, and β-Thalassemia by Capillary Isoelectric Focusing

et al. 1997

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“…syndromes are encountered occasionally in the African Negro (Stijns and Charles, 1956;Vandepitte, 1959;Watson-Williams, 1965;Esan, 1970;Weatherall et al, 1971) and there are indications that in parts ofWest Africa, mainly Northern Ghana (Ringlehann et al, 1968), Upper Volta (Rucknagel and Neel, 1961), and more especially Liberia and its environs (Olesen et al, 1959;Neel et al, 1961;Willcox, 1975), thalassaemia reaches a fairly high frequency. Homozygous ,B thalassaemia has also been reported occasionally in American Negroes and recent reports indicate that, judged by in-vitro haemoglobin synthesis studies, the condition is remarkably heterogeneous, even in the few cases studied in detail (Scott et al, 1962;Weatherall, 1964;Friedman et al, 1972;Braverman et al, 1973).…”

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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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“…The haemoglobin A2 value obtained by a quantitative cellulose acetate electrophoresis was 3-3 0/. This is at the upper limit of the normal adult range (Weatherall et al, 1971). Electrophoresis on agar gel, pH 6-0 (Robinson et al, 1957) or pH 5.9 (Marder and Conley, 1959), revealed two major components; one in the position of haemoglobin S and the other, of almost equal concentration, close to the origin.…”

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confidence: 76%

“…Haemoglobin A2 levels were estimated by the modification of the method of Marengo-Rowe (1965) described by Weatherall et al (1971). Alkali resistant haemoglobin levels were determined by the methods of Singer, Chemoff, and Singer (1951) and Betke, Marti, and Schlicht (1959).…”

Section: Methodsmentioning

confidence: 99%

Haemoglobin Ocho Rios ( beta52 (D3) aspartic acid leads to alanine): a new beta-chain variant of haemoglobin A found in combination with haemoglobin S.

Beresford¹,

Clegg²,

Weatherall³

1972

Journal of Medical Genetics

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During a routine study of the parents of a 3-month-old Jamaican child with the sickle-cell trait the father was found to have a haemoglobin electrophoretic pattern identical to that of homozygous sickle-cell disease. Because he was perfectly well and had no haematological abnormalities detailed studies of his haemoglobin constitution were undertaken. These indicate that he is heterozygous for both haemoglobin S and a previously undescribed /3-chain haemoglobin variant. MethodsHaemoglobin analysis was carried out by electrophoresis on cellulose acetate (Kohn, 1969), starch gel using a TRIS-EDTA-borate system, pH 8-5 or phosphate system, pH 7-0 (Weatherall, 1965), agar gel (Robinson et al, 1957;Marder and Conley, 1959) and starch block using a phosphate buffer system, pH 6-5 (Weatherall, 1965). Haemoglobin A2 levels were estimated by the modification of the method of Marengo-Rowe (1965) described by Weatherall et al (1971). Alkali resistant haemoglobin levels were determined by the methods of Singer, Chemoff, and Singer (1951) and Betke, Marti, and Schlicht (1959). Blood films were also examined for the presence of fetal haemoglobin-containing cells by the method of Kleihauer, Braun, and Betke (1957). Preparation of globin, separation of globin chains on carboxymethyl (CM)-cellulose columns in 8M urea, isolation of purified chains, fingerprinting, and aminoacid analysis followed the methods described by Clegg, Naughton, and Weatherall (1966). ResultsClinical and Haematological Investigation.The propositus was a 3-month-old Jamaican Negro child with the sickle-cell trait and no haematological abnormalities. The child's mother and father were available for study. The mother's blood picture and haemoglobin electrophoretic pattern were (1959) and none of the red cells showed resistance to acid elution.Globin was prepared from the father's haemolysate without prior purification and the constituent globin chains examined by CM-cellulose chromatography in 8M urea, pH 6-7. Two globin chain 151 on 29 April 2019 by guest. Protected by copyright.

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Preliminary surveys for the prevalence of the thalassaemia genes in some African populations

Cited by 40 publications

References 14 publications

Hemoglobin A₂Levels in Healthy Persons, Sickle Cell Disease, Sickle Cell Trait, and β-Thalassemia by Capillary Isoelectric Focusing

Hemoglobin A₂Levels in Healthy Persons, Sickle Cell Disease, Sickle Cell Trait, and β-Thalassemia by Capillary Isoelectric Focusing

Homozygous beta thalassaemia in Liberia.

Haemoglobin Ocho Rios ( beta52 (D3) aspartic acid leads to alanine): a new beta-chain variant of haemoglobin A found in combination with haemoglobin S.

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Preliminary surveys for the prevalence of the thalassaemia genes in some African populations

Cited by 40 publications

References 14 publications

Hemoglobin A2Levels in Healthy Persons, Sickle Cell Disease, Sickle Cell Trait, and β-Thalassemia by Capillary Isoelectric Focusing

Hemoglobin A2Levels in Healthy Persons, Sickle Cell Disease, Sickle Cell Trait, and β-Thalassemia by Capillary Isoelectric Focusing

Homozygous beta thalassaemia in Liberia.

Haemoglobin Ocho Rios ( beta52 (D3) aspartic acid leads to alanine): a new beta-chain variant of haemoglobin A found in combination with haemoglobin S.

Contact Info

Product

Resources

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Hemoglobin A₂Levels in Healthy Persons, Sickle Cell Disease, Sickle Cell Trait, and β-Thalassemia by Capillary Isoelectric Focusing

Hemoglobin A₂Levels in Healthy Persons, Sickle Cell Disease, Sickle Cell Trait, and β-Thalassemia by Capillary Isoelectric Focusing