American Journal of Medical Genetics 42:393 (1992)
Letter to the Editor Fanconi Anemia in Blacks To the Editor: The article by Macdougall et al. [19901 on Fanconi anemia (FA) in black African children points out features which suggest that FA in blacks resembles more closely FA in every population group except Afrikaaners. However, they underestimate the frequency with which FA has been reported in blacks. There are a t least 9 such references to 14 more cases [Coutinho et al., 1971; de Grouchy et al., 1972; Lui et al., 1977; Dosik et al., 1979; Stein et al., 1981; de Chadarevian et al., 1985; Barton et al., 1987; Opinya et al., 1988; Rogers et al., 1989in addition to the 7 references to 8 cases cited by the authors [Varela and Sternberg, 1967; Whitehall, 1971; Pochedly et al., 1971; Gershanik et al., 1972; Meme et al., 1973; Chu et al., 1979; Zakrzewski and Sperling, 1982. The total number of blacks reported prior to the Macdougall et al. paper was 22, which was 3% of a total of -700 reported FA patients [Alter and Young, 19911. With the additional 25 cases, the proportion is now 6%. The general impression from the 700 cases, including several reports from the same group, is that the condition is certainly heterogeneous. The most clearly different subset is in fact the Afrikaaners [Rosendorff et al., 19871;blacks (whether South African or of other origins) appear to be comparable to the overall FA population. While it appears that there is more than one mutation responsible for the FA gene, it is not yet clear whether these mutations are unique to specific populations.
REFERENCES Alter BP, Young NS (1991):The bone marrow failure syndromes. In Nathan DG, Oski FA (eds):“Hematologyof Infancy and Childhood.” Philadelphia: WB Saunders, in press. Barton JC, Parmley RT, Carroll AJ, Huang ST, Goodnough LT, Findley HW, J r (1987):Preleukemia in Fanconi’s anemia: Hematopoietic cell multinuclearity, membrane duplication, and dysgranulogenesis. J Submicrosc Cytol 19:355-364. Chu J-Y, Ho JE, Monteleone PL, O’Connor DM (1979):Technetium colloid bone marrow imaging in Fanconi’s anemia. Pediatrics 64:635-639. Coutinho V, Falcao RP, Bottura C (1971):Cytogenetic observations in congenital familial panmyelopathy (Fanconi’s syndrome). Nouv Rev Fr Hematol 11:781-790.
Received for publication August 13,1990;revision received January 18, 1991. Address reprint requests to Blanche P. Alter, MD, Division of Hematology, Box 1079, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029-6574.
0 1992 Wiley-Liss, Inc.
De Chadarevian J-P, Vekemans M, Bernstein M (1985):Fanconi’s anemia, medulloblastoma,Wilms’ tumor, horseshoe kidney, and gonadal dysgenesis. Arch Path01 Lab Med 109:367-369. De Grouchy J, De Nava C, Marchand JC, Feingold J , Turleau C (1972): Etudes cytogbnbtique et biochimique de huit cas d’anemie de Fanconi. Ann Genet 1529-40. Dosik H, Steier W, Lubiniecki A (1979):Inherited aplastic anaemia with increased endoreduplications: A new syndrome or Fanconi‘s anaemia variant? Br J Haematol 41:77-82. Gershanik JJ, Morgan SK, Akers R (1972):Fanconi’s anemia in a neonate. Acta Paediatr Scand 61:623-625. Lui VK, Ragab AH, Findley HS, Frauen BJ (1977):Bone marrow cultures in children with Fanconi anemia and the TAR syndrome.J Pediatr 91:952-954. Macdougall LG, Greeff MC, RosendorfTJ, Bernstein R (1990):Fanconi anemia in Black African children. Am J Med Genet 36:408-413. Meme JS, Oduori ML, Gripenberg U (1975):Fanconi’s aplastic anaemia: A case report of an affected African child and a review of the literature. East Afr Med J 52:462-466. Opinya GN, Kaimenyi JT, Meme J S (1988):Oral findings in Fanconi’s anemia. J Periodontol 50:461-463. Pochedly C, Colipp PJ, Wolman SR, Suwansirikul S, Rezvani I (1971): Fanconi’s anemia with growth hormone deficiency.J Pediatr 799396. Rogers PCJ, Desai F, Karabus CD, Hartley PS, Fisther RM (1989): Presentation and outcome of 25 cases of Fanconi’s anemia. Am J Pediatr HematoliOncol 11:141-145. Rosendorff J , Bernstein R, Macdougall L, Jenkins T (1987):Fanconi anemia: Another disease of unusually high prevalence in the Afrikaans population of South Africa. Am J Med Genet 27:793-797. Stein AC, Blanck DM, Bennett AJ, Gold BD, Berger J (1981):Acute myelomonocytic leukemia in a patient with Fanconi’s anemia. J Oral Surg 39:624-627. Varela MA, Sternberg WH (1967):Preanaemic state in Fanconi‘s anaemia. Lancet ii:566-567. Whitehall J (1971):Fanconi’s anaemia in an African. Cent Afr J Med 17:25-30. Zakrzewski S, Sperling K (1982):Analysis of heterogeneity in Fanconi’s anemia patients of different ethnic origin. Hum Genet 62:321-323.
Blanche P. Alter Division of Hematology Mount Sinai School of Medicine New York, New York
Letter to the Editor Fanconi Anemia in Blacks To the Editor: The article by Macdougall et al. [19901 on Fanconi anemia (FA) in black African children points out features which suggest that FA in blacks resembles more closely FA in every population group except Afrikaaners. However, they underestimate the frequency with which FA has been reported in blacks. There are a t least 9 such references to 14 more cases [Coutinho et al., 1971; de Grouchy et al., 1972; Lui et al., 1977; Dosik et al., 1979; Stein et al., 1981; de Chadarevian et al., 1985; Barton et al., 1987; Opinya et al., 1988; Rogers et al., 1989in addition to the 7 references to 8 cases cited by the authors [Varela and Sternberg, 1967; Whitehall, 1971; Pochedly et al., 1971; Gershanik et al., 1972; Meme et al., 1973; Chu et al., 1979; Zakrzewski and Sperling, 1982. The total number of blacks reported prior to the Macdougall et al. paper was 22, which was 3% of a total of -700 reported FA patients [Alter and Young, 19911. With the additional 25 cases, the proportion is now 6%. The general impression from the 700 cases, including several reports from the same group, is that the condition is certainly heterogeneous. The most clearly different subset is in fact the Afrikaaners [Rosendorff et al., 19871;blacks (whether South African or of other origins) appear to be comparable to the overall FA population. While it appears that there is more than one mutation responsible for the FA gene, it is not yet clear whether these mutations are unique to specific populations.
REFERENCES Alter BP, Young NS (1991):The bone marrow failure syndromes. In Nathan DG, Oski FA (eds):“Hematologyof Infancy and Childhood.” Philadelphia: WB Saunders, in press. Barton JC, Parmley RT, Carroll AJ, Huang ST, Goodnough LT, Findley HW, J r (1987):Preleukemia in Fanconi’s anemia: Hematopoietic cell multinuclearity, membrane duplication, and dysgranulogenesis. J Submicrosc Cytol 19:355-364. Chu J-Y, Ho JE, Monteleone PL, O’Connor DM (1979):Technetium colloid bone marrow imaging in Fanconi’s anemia. Pediatrics 64:635-639. Coutinho V, Falcao RP, Bottura C (1971):Cytogenetic observations in congenital familial panmyelopathy (Fanconi’s syndrome). Nouv Rev Fr Hematol 11:781-790.
Received for publication August 13,1990;revision received January 18, 1991. Address reprint requests to Blanche P. Alter, MD, Division of Hematology, Box 1079, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029-6574.
0 1992 Wiley-Liss, Inc.
De Chadarevian J-P, Vekemans M, Bernstein M (1985):Fanconi’s anemia, medulloblastoma,Wilms’ tumor, horseshoe kidney, and gonadal dysgenesis. Arch Path01 Lab Med 109:367-369. De Grouchy J, De Nava C, Marchand JC, Feingold J , Turleau C (1972): Etudes cytogbnbtique et biochimique de huit cas d’anemie de Fanconi. Ann Genet 1529-40. Dosik H, Steier W, Lubiniecki A (1979):Inherited aplastic anaemia with increased endoreduplications: A new syndrome or Fanconi‘s anaemia variant? Br J Haematol 41:77-82. Gershanik JJ, Morgan SK, Akers R (1972):Fanconi’s anemia in a neonate. Acta Paediatr Scand 61:623-625. Lui VK, Ragab AH, Findley HS, Frauen BJ (1977):Bone marrow cultures in children with Fanconi anemia and the TAR syndrome.J Pediatr 91:952-954. Macdougall LG, Greeff MC, RosendorfTJ, Bernstein R (1990):Fanconi anemia in Black African children. Am J Med Genet 36:408-413. Meme JS, Oduori ML, Gripenberg U (1975):Fanconi’s aplastic anaemia: A case report of an affected African child and a review of the literature. East Afr Med J 52:462-466. Opinya GN, Kaimenyi JT, Meme J S (1988):Oral findings in Fanconi’s anemia. J Periodontol 50:461-463. Pochedly C, Colipp PJ, Wolman SR, Suwansirikul S, Rezvani I (1971): Fanconi’s anemia with growth hormone deficiency.J Pediatr 799396. Rogers PCJ, Desai F, Karabus CD, Hartley PS, Fisther RM (1989): Presentation and outcome of 25 cases of Fanconi’s anemia. Am J Pediatr HematoliOncol 11:141-145. Rosendorff J , Bernstein R, Macdougall L, Jenkins T (1987):Fanconi anemia: Another disease of unusually high prevalence in the Afrikaans population of South Africa. Am J Med Genet 27:793-797. Stein AC, Blanck DM, Bennett AJ, Gold BD, Berger J (1981):Acute myelomonocytic leukemia in a patient with Fanconi’s anemia. J Oral Surg 39:624-627. Varela MA, Sternberg WH (1967):Preanaemic state in Fanconi‘s anaemia. Lancet ii:566-567. Whitehall J (1971):Fanconi’s anaemia in an African. Cent Afr J Med 17:25-30. Zakrzewski S, Sperling K (1982):Analysis of heterogeneity in Fanconi’s anemia patients of different ethnic origin. Hum Genet 62:321-323.
Blanche P. Alter Division of Hematology Mount Sinai School of Medicine New York, New York
