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Probable Homozygous Beta Thalassemia in a Negro Child

Probable Homozygous Beta Thalassemia in a Negro Child Abstract Probable homozygous beta thalassemia was detected in a Negro child. The criteria for this diagnosis included (1) a compatible clinical picture, (2) 60% hemoglobin F, 8.8% hemoglobin A2, and 31.2% hemoglobin A, and (3) peripheral blood smear compatible with homozygous beta thalassemia. The mild clinical course in this patient and in other Negroes with this disease reported, is suggestive of a fundamental difference between the defect in Negroes and other ethnic groups. A review of the literature shows the paucity of this disease in Negroes, with only eight other cases reported in America. The reasons for this are unknown. Patients with homozygous beta thalassemia who show a mild clinical course serve as an excellent example of how genetic modifiers are involved in the various forms of this entity. References 1. Necheles TF, Allen DM, Finkel HI: Clinical Disorders of Hemoglobin Structure and Synthesis . New York, Appleton-Century-Crofts Inc, 1969, p 98-205. 2. Weatherall DJ: The Thalassemia Syndromes . Oxford, England, Blackwell Scientific Publications, 1965. 3. Cooley TB, Witwer ER, Lee P: Anemia in children: With splenomegaly and peculiar bone changes . Amer J Dis Child 34:347-363, 1927.Crossref 4. Chernoff AI: The distribution of the thalassemia gene: A historical review . Blood 14:899-912,1959. 5. Dacie JV: The Hemolytic Anemia, Congenital and Acquired Part I: The Congenital Anemias , ed 2. New York, Grune & Stratton, 1960, pp 201-233. 6. Goldstein MA, Patpongnonii N: Incidence of elevated hemoglobin A2 levels in the American Negro . Ann Intern Med 60:95-99, 1959.Crossref 7. Weatherall DJ: Biochemical phenotypes of thalassemia in the American Negro population . Ann NY Acad Med 119:450-462, 1964.Crossref 8. Verly MT, Booker CR, Ferguson AD, et al: Incidence of thalassemia syndromes and hemoglobinopathies in a Negro population . Med Ann DC 36:667-669,1967. 9. Myerson RM, Harrison E, Lohmuller HW: Incidence and significance of abnormal hemoglobins: Report of 1000 hospitalized Negro veterans . Amer J Med 26:543,1959.Crossref 10. Schwartz SO, Hartz WH Jr: Mediterranean anemia in the Negro: A reevaluation . Blood 10:1256, 1955. 11. Stiles MH, Marlowe CH, Dangerfield D: Mediterranean anemia: Report of case in Negro . Northwest Med 45:23,1946. 12. Faber HK, Roth BM: Mediterranean anemia in a Negro girl . J Pediat 28:610, 1946.Crossref 13. Banks LO, Scott RB: Thalassemia in Negroes: Report of a case of Cooley's anemia in a Negro child . Pediatrics 11:622, 1953. 14. Scott RB, Ferguson AD, Jenkins ME: Thalassemia major (Mediterranean or Cooley's anemia): A report of two cases in Negro children . Amer J Dis Child 104:74-81, 1962.Crossref 15. Norris JE, Hanson HH, Loeffler RK: Mediterranean anemia in an adult Negro . Arch Intern Med 98:356, 1956.Crossref 16. Shepard MK, Weatherall DJ, Conley DL: Semi-quantitative estimation of distribution of fetal hemoglobin in red cell populations . Bull Hopkins Hosp 110:293, 1962. 17. Went LV, MacIver JE: Thalassemia in the West Indies . Blood 17:166-179, 1961. 18. Pearson HA: Hemoglobin S: Thalassemia syndrome, conference on the problems of Cooley's anemia . Ann NY Acad Sci 165:91, 1969.Crossref 19. Cohen F, Zuelger WW, Neel JV: Multiple inherited erythrocyte abnormalities in an American Negro family: Hereditary spherocytosis, sickling, and thalassemia . Blood 14:816-827, 1959. 20. Wolff JA, Ignatov VG: Heterogeneity of thalassemia major . Amer J Dis Child 105:234-242, 1963. 21. Heller P, Gakulis V, Rosenweig AI, et al: Mild homozygous beta thalassemia: Further evidence for the heterogeneity of beta thalassemia genes . Ann Intern Med 64:52-61, 1966.Crossref 22. Schwartz SO: The silent carrier of beta thalassemia . New Eng J Med 281:1327-1331, 1969.Crossref 23. Baserga A: Cytogenetics of thalassemia . Ann NY Acad Sci 119:413-414, 1964.Crossref 24. Pearson HA: Newer concepts in the genetics of the thalassemias . Pediat Clin N Amer 9:634-647,1962. 25. Ingram VM: A molecular model for thalassemia . Ann NY Acad Sci 119:485-495, 1964.Crossref 26. Marks PA, Burke ER: Hemoglobin synthesis: A defect in globin formation in thalassemia major . Ann NY Acad Med 119:513-521,1964.Crossref 27. Bannerman RM: Abnormalities in heme and pyrrole metabolism in thalassemia . Ann NY Acad Sci 119:503-512, 1964.Crossref 28. Weatherall DJ: Pattern of disordered haemoglobin synthesis in homozygous and heterozygous beta thalassemia . Brit J Haemat 16:251-267, 1969.Crossref 29. Weatherall DJ, Clegg JB, Naughton MA: Globin synthesis in thalassemia: An in vitro study . Nature 208:1061-1065, 1965.Crossref 30. Heywood JD, Karon M, Weissman S: Amino acids: Incorporation into alpha and chains of hemoglobin by normal and thalassemia reticulocytes . Science 146:530-531, 1964.Crossref 31. Marks PA: Thalassemia syndrome, biochemical, genetic, and clinical aspects . New Eng J Med 275:1363, 1966.Crossref 32. Bank A, Braverman A, Marks P: Globin chain synthesis in thalassemia . Ann NY Acad Sci 165:231-237,1969.Crossref 33. Bank A, Marks PA: Excess alpha chain synthesis relative to beta chain synthesis in thalassemia major and minor . Nature 212:1198-1200,1966.Crossref 34. Necheles TF, Allen DM, Gerald PS: The many forms of thalassemia, definition, and classification of thalassemia syndromes . Ann NY Acad Sci 105:5-12,1969.Crossref 35. Pearson HA: Thalassemia intermedia, genetic and biochemical considerations . Ann NY Acad Sci 119:395-396, 1964. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Probable Homozygous Beta Thalassemia in a Negro Child

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Publisher
American Medical Association
Copyright
Copyright © 1970 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1970.02100090130018
Publisher site
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Abstract

Abstract Probable homozygous beta thalassemia was detected in a Negro child. The criteria for this diagnosis included (1) a compatible clinical picture, (2) 60% hemoglobin F, 8.8% hemoglobin A2, and 31.2% hemoglobin A, and (3) peripheral blood smear compatible with homozygous beta thalassemia. The mild clinical course in this patient and in other Negroes with this disease reported, is suggestive of a fundamental difference between the defect in Negroes and other ethnic groups. A review of the literature shows the paucity of this disease in Negroes, with only eight other cases reported in America. The reasons for this are unknown. Patients with homozygous beta thalassemia who show a mild clinical course serve as an excellent example of how genetic modifiers are involved in the various forms of this entity. References 1. Necheles TF, Allen DM, Finkel HI: Clinical Disorders of Hemoglobin Structure and Synthesis . New York, Appleton-Century-Crofts Inc, 1969, p 98-205. 2. Weatherall DJ: The Thalassemia Syndromes . Oxford, England, Blackwell Scientific Publications, 1965. 3. Cooley TB, Witwer ER, Lee P: Anemia in children: With splenomegaly and peculiar bone changes . Amer J Dis Child 34:347-363, 1927.Crossref 4. Chernoff AI: The distribution of the thalassemia gene: A historical review . Blood 14:899-912,1959. 5. Dacie JV: The Hemolytic Anemia, Congenital and Acquired Part I: The Congenital Anemias , ed 2. New York, Grune & Stratton, 1960, pp 201-233. 6. Goldstein MA, Patpongnonii N: Incidence of elevated hemoglobin A2 levels in the American Negro . Ann Intern Med 60:95-99, 1959.Crossref 7. Weatherall DJ: Biochemical phenotypes of thalassemia in the American Negro population . Ann NY Acad Med 119:450-462, 1964.Crossref 8. Verly MT, Booker CR, Ferguson AD, et al: Incidence of thalassemia syndromes and hemoglobinopathies in a Negro population . Med Ann DC 36:667-669,1967. 9. Myerson RM, Harrison E, Lohmuller HW: Incidence and significance of abnormal hemoglobins: Report of 1000 hospitalized Negro veterans . Amer J Med 26:543,1959.Crossref 10. Schwartz SO, Hartz WH Jr: Mediterranean anemia in the Negro: A reevaluation . Blood 10:1256, 1955. 11. Stiles MH, Marlowe CH, Dangerfield D: Mediterranean anemia: Report of case in Negro . Northwest Med 45:23,1946. 12. Faber HK, Roth BM: Mediterranean anemia in a Negro girl . J Pediat 28:610, 1946.Crossref 13. Banks LO, Scott RB: Thalassemia in Negroes: Report of a case of Cooley's anemia in a Negro child . Pediatrics 11:622, 1953. 14. Scott RB, Ferguson AD, Jenkins ME: Thalassemia major (Mediterranean or Cooley's anemia): A report of two cases in Negro children . Amer J Dis Child 104:74-81, 1962.Crossref 15. Norris JE, Hanson HH, Loeffler RK: Mediterranean anemia in an adult Negro . Arch Intern Med 98:356, 1956.Crossref 16. Shepard MK, Weatherall DJ, Conley DL: Semi-quantitative estimation of distribution of fetal hemoglobin in red cell populations . Bull Hopkins Hosp 110:293, 1962. 17. Went LV, MacIver JE: Thalassemia in the West Indies . Blood 17:166-179, 1961. 18. Pearson HA: Hemoglobin S: Thalassemia syndrome, conference on the problems of Cooley's anemia . Ann NY Acad Sci 165:91, 1969.Crossref 19. Cohen F, Zuelger WW, Neel JV: Multiple inherited erythrocyte abnormalities in an American Negro family: Hereditary spherocytosis, sickling, and thalassemia . Blood 14:816-827, 1959. 20. Wolff JA, Ignatov VG: Heterogeneity of thalassemia major . Amer J Dis Child 105:234-242, 1963. 21. Heller P, Gakulis V, Rosenweig AI, et al: Mild homozygous beta thalassemia: Further evidence for the heterogeneity of beta thalassemia genes . Ann Intern Med 64:52-61, 1966.Crossref 22. Schwartz SO: The silent carrier of beta thalassemia . New Eng J Med 281:1327-1331, 1969.Crossref 23. Baserga A: Cytogenetics of thalassemia . Ann NY Acad Sci 119:413-414, 1964.Crossref 24. Pearson HA: Newer concepts in the genetics of the thalassemias . Pediat Clin N Amer 9:634-647,1962. 25. Ingram VM: A molecular model for thalassemia . Ann NY Acad Sci 119:485-495, 1964.Crossref 26. Marks PA, Burke ER: Hemoglobin synthesis: A defect in globin formation in thalassemia major . Ann NY Acad Med 119:513-521,1964.Crossref 27. Bannerman RM: Abnormalities in heme and pyrrole metabolism in thalassemia . Ann NY Acad Sci 119:503-512, 1964.Crossref 28. Weatherall DJ: Pattern of disordered haemoglobin synthesis in homozygous and heterozygous beta thalassemia . Brit J Haemat 16:251-267, 1969.Crossref 29. Weatherall DJ, Clegg JB, Naughton MA: Globin synthesis in thalassemia: An in vitro study . Nature 208:1061-1065, 1965.Crossref 30. Heywood JD, Karon M, Weissman S: Amino acids: Incorporation into alpha and chains of hemoglobin by normal and thalassemia reticulocytes . Science 146:530-531, 1964.Crossref 31. Marks PA: Thalassemia syndrome, biochemical, genetic, and clinical aspects . New Eng J Med 275:1363, 1966.Crossref 32. Bank A, Braverman A, Marks P: Globin chain synthesis in thalassemia . Ann NY Acad Sci 165:231-237,1969.Crossref 33. Bank A, Marks PA: Excess alpha chain synthesis relative to beta chain synthesis in thalassemia major and minor . Nature 212:1198-1200,1966.Crossref 34. Necheles TF, Allen DM, Gerald PS: The many forms of thalassemia, definition, and classification of thalassemia syndromes . Ann NY Acad Sci 105:5-12,1969.Crossref 35. Pearson HA: Thalassemia intermedia, genetic and biochemical considerations . Ann NY Acad Sci 119:395-396, 1964.

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Oct 1, 1970

References