Benign Sickle Cell-Thalassemia Disease and Cryptic Thalassemia in a Negro Family
Authors: WILLIAM A. REYNOLDS
Journal: Annals of Internal Medicine (1962)

Case Studies1 July 1962Benign Sickle Cell-Thalassemia Disease and Cryptic Thalassemia in a Negro FamilyWILLIAM A. REYNOLDS, M.D.WILLIAM A. REYNOLDS, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-57-1-121 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptSickle cell-thalassemia disease, or microdrepanocytosis, is a hemoglobinopathy resulting from the combination of a sickle cell gene and a thalassemia gene. In 1945 Silvestroni and Bianco were the first to describe this disease as a clinical, hematologic, and genetic entity as found in a number of Sicilian families (1-5). In a survey of the literature through 1956, Brown and Ober (6) collected 34 cases and added one case of their own. Up to the present more than 130 cases have been reported in the world medical literature. In addition at least 14 cases previously described as sickle cell anemia better...References1. SILVESTRONIBIANCO EI: Micro-drepanocitoanemia in un soggetto di razza bianca. Boll. Atti Accad. Med. Roma 70: 347, 1944-45. Google Scholar2. IBID.: Una nuova entita nosologica: "lamalattia micro-drepanocytica." Haematologica 29: 455, 1946. Google Scholar3. IBID.: Genetic aspects of sickle cell anemia and microdrepanocytic disease. Blood 7: 429, 1952. CrossrefMedlineGoogle Scholar4. IBID.: New data on microdrepanocytic disease. Blood 10: 623, 1955. CrossrefMedlineGoogle Scholar5. IBID.: Singulare associazione di anaemia microcitica constituzionale con drepanociticaanaemia in soggetto di rizza bianca. Policlinico (Prat.) 53: 265, 1946. Google Scholar6. BROWNOBER DEWB: Sickle cell-thalassemia (microdrepanocytic disease) in pregnancy. Amer. J. Obstet. Gynec. 75: 773, 1958. CrossrefMedlineGoogle Scholar7. CHERNOFF AI: The human hemoglobins in health and disease. New Engl. J. Med. 253: 322, 365, 416, 1955. CrossrefMedlineGoogle Scholar8. SILVESTRONIBIANCO EI: La malattia micro drepanocitica. Pediatria (Nap.) 61: 11, 1953. MedlineGoogle Scholar9. AKSOYLEHMAN MH: Sickle cell-thalassemia disease in South Turkey. Brit. Med. J. 1: 734, 1957. CrossrefMedlineGoogle Scholar10. WENTMACIVER LNJE: Sickle cell anemia in adults and its differentiation from sickle cell-thalassemia. Lancet 2: 824, 1958. CrossrefMedlineGoogle Scholar11. SINGERSINGERGOLDBERG KLSR: Studies on abnormal hemoglobins. XI. Sickle cell-thalassemia disease in the Negro. Blood 10: 405, 1955. CrossrefMedlineGoogle Scholar12. MACIVERWENTCRUICKSHANK JELNEK: Sickle cell-thalassemia disease in Jamaica. Blood 13: 359, 1958. CrossrefMedlineGoogle Scholar13. CHOREMISZANNOS CL: Microdrepanocytic disease. Blood 12: 454, 1957. CrossrefMedlineGoogle Scholar14. ROCHEDERRIEUDIACONODURIEUXLAURENTREYNAUDROUXBRANGIER JYDJGJMJ: Co-existence de tares sicklemiques et thalassemiques dans une famille tunisienne. Rev. Hemat. (Par.) 1: 2, 1956. Google Scholar15. SHUKLASOLANKIPARANDE RNBRAS: Sickle cell disease in India. Blood 13: 552, 1958. CrossrefMedlineGoogle Scholar16. NAILKOTHARIJHAVERISUKAMARANSANGHVI SKBVCLPKLD: Fatal hemolytic anemia presumably due to the combination of sickle cell and thalassemia genes: case report. Indian J. Med. Sci. 11: 244, 1957. MedlineGoogle Scholar17. EDINGTONLEHMAN GMH: Expression of sickle-cell gene in Africa. Brit. Med. J. 1: 1308, 1955. CrossrefMedlineGoogle Scholar18. IBID.: 2: 1328, 1955. Google Scholar19. MACIVERWENTIRVINE JELNRA: Hereditary persistence of foetal haemoglobin: a family study suggesting allelism of the F gene to the S and C haemoglobin genes. Brit. J. Haemat. 7: 373, 1961. CrossrefMedlineGoogle Scholar20. THOMPSONMITCHNERHUISMAN RBJWHJ: Studies on the fetal hemoglobin in the persistent high hemoglobin F anomaly. Blood 18: 267, 1961. CrossrefMedlineGoogle Scholar21. HUMBLEANDERSONWHITEFREEMAN JGIJCT: A family illustrating the double inheritance of the sickle cell trait and of Mediterranean anaemia. J. Clin. Path. 7: 201, 1954. CrossrefMedlineGoogle Scholar22. : The hemoglobinopathies. Blood 12: 90, 1957. Google Scholar23. Cases from the Medical Grand Rounds, Massachusetts General Hospital, case 412: Amer. Practit. 9: 1301, 1958. Google Scholar24. COHENZUELZERNEELROBINSON FWWJVAR: Multiple inherited erythrocyte abnormalities in an American Negro family: hereditary spherocytosis, sickling and thalassemia. Blood 14: 816, 1959. CrossrefMedlineGoogle Scholar25. FLOCKGREENWALDSUSSMANLITIVINS MHHLJ: Microdrepanocytic anemia in a Jewish Negro woman. New York J. Med. 59: 324, 1959. MedlineGoogle Scholar26. HAMBATTLE THJD: Viscosity of sickle cells: a 34 year study of an Italian family with sickle cell and thalassemia traits; splenectomy in two members. Trans. Amer. Clin. Climat. Ass. 68: 146, 1956. MedlineGoogle Scholar27. REICHROSENBERG RSNJ: Aseptic necrosis of bone in Caucasians with chronic hemolytic anaemia due to combined sickling and thalassemia traits. J. Bone Joint Surg. 35: 894, 1953. CrossrefMedlineGoogle Scholar28. GOLDINGMACIVERWENT JSJELN: The bone changes in sickle cell anaemia and its genetic varients. J. Bone Joint Surg. 41: 711, 1959. CrossrefGoogle Scholar29. SCHLITTKEITEL LEHG: Pathogenesis of hyposthenuria in persons with sickle cell anemia or the sickle cell trait. Pediatrics 26: 249, 1960. MedlineGoogle Scholar30. SCHLITTKEITEL LEHG: Renal manifestations of sickle cell disease: a review. Amer. J. Med. Sci. 239: 773, 1960. CrossrefMedlineGoogle Scholar31. JENSEN WN: The hemoglobinopathies. DM, February, 1961. Google Scholar32. SCHWARTZSPAETZUELZERNEELROBINSONKAUFMAN HDTHWWJVHRSF: Combination of hemoglobin G, hemoglobin S and thalassemia occurring in one family. Blood 12: 238, 1957. CrossrefMedlineGoogle Scholar33. MCCURDY PR: Clinical and physiologic studies in a Negro with sickle-cell hemoglobin D disease. New Engl. J. Med. 262: 961, 1960. CrossrefGoogle Scholar34. MARCHALBILSKY-PASQUIERDE GRANCHYCOMBUSSONDEPLANTE GGJAR: Sur un cas de thalasso-drepanocytose (máladie de Silvestroni et Bianco). Etude des hemoglobines et de la genetique. Splenectomie. Rev. Hemat. (Par.) 15: 291, 1960. MedlineGoogle Scholar35. ASCENZISILVESTRONI AE: Etude anatomoclinique d'un cas de maladie microdrepanocytique. Acta Haemat. (Basel) 18: 205, 1957. CrossrefMedlineGoogle Scholar36. INGRAMSTRETTON VMAO: Genetic basis of thalassaemia diseases. Nature 184: 1903, 1959. CrossrefMedlineGoogle Scholar37. WENTMACIVER LNJE: Thalassemia in the West Indies. Blood 17: 166, 1961. CrossrefMedlineGoogle Scholar38. KUNKELWALLENIUS HGG: New hemoglobin in normal adult blood. Science 122: 288, 1955. CrossrefMedlineGoogle Scholar39. GERALDDIAMOND PSLK: The diagnosis of thalassemia trait by starch block electrophoresis of the hemoglobin. Blood 13: 61, 1958. CrossrefMedlineGoogle Scholar40. JOSEPHSONMASRISINGERDWORKINSINGER AMMSLDK: Starch block electrophoretic studies of human hemoglobin solutions. Blood 13: 543, 1958. CrossrefMedlineGoogle Scholar41. CEPPELLINI R: in Ciba Foundation Symposium on Biochemistry of Human Genetics, Little, Brown and Company, Boston, 1959, pp. 133-138. Google Scholar42. ZUELZERROBINSONBOOKER WWARCR: Reciprocal relationship of hemoglobins A2 and F in β chain thalassemias, a key to the genetic control of hemoglobin F. Blood 17: 393, 1961. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Rochester, MinnesotaRequests for reprints should be addressed to William A. Reynolds, M.D., 934 C Homestead Village, Rochester, Minnesota. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByInherited disorders of hemoglobin synthesis and pregnancyGrundzüge einer historischen und geographischen PathologieThe S-Thalassemia Syndrome* 1 July 1962Volume 57, Issue 1Page: 121-128KeywordsAnemiaBeta-thalassemiaClinical geneticsGenetic diseasesHematologic testsHemoglobinHemoglobinopathiesSickle cell diseaseStarchesThalassemia Issue Published: 1 July 1962 PDF DownloadLoading ...