American Journal of Medical Genetics 36408-413 (1990)
Fanconi Anemia in Black African Children Lorna G. Macdougall, Michael C. Greeff, Jennifer Rosendorff, and Renee Bernstein Department of Paediatrics, University of the Witwatersrand and Baragwanath Hospital (L.G.M.,M.C.G.), and Department of Human Genetics, MRC Human Ecogenetics Research Unit, South African Znstitute for Medical Research and School of Pathology, University of the Witwatersrand (J.R.,R.B.), Johannesburg, South Africa
Fanconi anemia (FA)has rarely been reported in black children either in the United States or Africa. This report describes 25 black African children with FA seen in Johannesburg over an ll-year period. The prevalence of homozygotes was estimated to be 1:476,000. Clinical manifestations, mean age at diagnosis, and hematologic and chromosome abnormalities were similar to those described in other ethnic groups. Response to androgens was poor and most patients required regular transfusions. Seventeen (68%) of the children died during the ll-year observation period. Leukemia was the terminal event in 2 patients. The mean age at death was 9.8years and the mean time between diagnosis and death 2.3 years. The poor response to androgens,high mortality, and early mean age at death would favor consideration of early bone marrow transplantation in these children.
[de Chadarkvian et al., 19851have appeared in the literature in the past 20 years. Here we report on our experience with 25 black South African children with FA seen at the Pediatric Hematology/Oncology Clinic at Baragwanath Hospital over an ll-year period between 1975 and 1985. The upper age limit for referral of pediatric patients is 15 years.
CLINICAL MANIFESTATIONS Of the 25 children, 13 were male and 12 female. The main physical abnormalities are shown in Table I along with those from other reported series from Europe [Alter et al., 19811, Canada [Glanz and F'raser, 19821, the United States [Alter and Potter, 19831, and Turkey [Gozdasoglu et al., 19801 and from the International Fanconi Anemia Register [Auerbach et al., 19891. Figures 1 and 2 show examples of pigmentary anomalies (often difficult to detect in black patients), thumb and hypothenar anomalies, short stature, microphthalmia, ptosis, ectopic kidney, and hypogonadism.
AGE AND MODE OF PRESENTATION The mean age at which the children first became symptomatic was 5.6 2 2.4 years. The main presenting sign in 17 (68%) was hemorrhage, predominantly epistaxis. Pallor, weakness, and symptoms attributable to anemia occurred in 11 (44%).Four children (16%)preINTRODUCTION sented with infections and one with a hypoplastic Although Fanconi anemia (FA) has been noted in all thumb. Most children had received treatment for aneethnic groups, most patients reported have been of Cau- mia andlor bleeding problems for at least a year before casoid origin. The estimated incidence of homozygous the correct diagnosis was made. The mean age at diagFA in the United States is 1:348,000 [Swift, 19711. An nosis was 6.8 +- 2.5 years. unusually high homozygote prevalence of 1:26,000 has HEMATOLOGIC CHANGES been found in the white Afrikaans-speaking population in South Africa [Rosendorff et al., 19871. The apparent Twenty-three children had peripheral pancytopenia rarity of FA in blacks has been noted in the United at the time of diagnosis (Table11). Severe anemia (Hb
Fanconi Anemia in Black African Children Lorna G. Macdougall, Michael C. Greeff, Jennifer Rosendorff, and Renee Bernstein Department of Paediatrics, University of the Witwatersrand and Baragwanath Hospital (L.G.M.,M.C.G.), and Department of Human Genetics, MRC Human Ecogenetics Research Unit, South African Znstitute for Medical Research and School of Pathology, University of the Witwatersrand (J.R.,R.B.), Johannesburg, South Africa
Fanconi anemia (FA)has rarely been reported in black children either in the United States or Africa. This report describes 25 black African children with FA seen in Johannesburg over an ll-year period. The prevalence of homozygotes was estimated to be 1:476,000. Clinical manifestations, mean age at diagnosis, and hematologic and chromosome abnormalities were similar to those described in other ethnic groups. Response to androgens was poor and most patients required regular transfusions. Seventeen (68%) of the children died during the ll-year observation period. Leukemia was the terminal event in 2 patients. The mean age at death was 9.8years and the mean time between diagnosis and death 2.3 years. The poor response to androgens,high mortality, and early mean age at death would favor consideration of early bone marrow transplantation in these children.
[de Chadarkvian et al., 19851have appeared in the literature in the past 20 years. Here we report on our experience with 25 black South African children with FA seen at the Pediatric Hematology/Oncology Clinic at Baragwanath Hospital over an ll-year period between 1975 and 1985. The upper age limit for referral of pediatric patients is 15 years.
CLINICAL MANIFESTATIONS Of the 25 children, 13 were male and 12 female. The main physical abnormalities are shown in Table I along with those from other reported series from Europe [Alter et al., 19811, Canada [Glanz and F'raser, 19821, the United States [Alter and Potter, 19831, and Turkey [Gozdasoglu et al., 19801 and from the International Fanconi Anemia Register [Auerbach et al., 19891. Figures 1 and 2 show examples of pigmentary anomalies (often difficult to detect in black patients), thumb and hypothenar anomalies, short stature, microphthalmia, ptosis, ectopic kidney, and hypogonadism.
AGE AND MODE OF PRESENTATION The mean age at which the children first became symptomatic was 5.6 2 2.4 years. The main presenting sign in 17 (68%) was hemorrhage, predominantly epistaxis. Pallor, weakness, and symptoms attributable to anemia occurred in 11 (44%).Four children (16%)preINTRODUCTION sented with infections and one with a hypoplastic Although Fanconi anemia (FA) has been noted in all thumb. Most children had received treatment for aneethnic groups, most patients reported have been of Cau- mia andlor bleeding problems for at least a year before casoid origin. The estimated incidence of homozygous the correct diagnosis was made. The mean age at diagFA in the United States is 1:348,000 [Swift, 19711. An nosis was 6.8 +- 2.5 years. unusually high homozygote prevalence of 1:26,000 has HEMATOLOGIC CHANGES been found in the white Afrikaans-speaking population in South Africa [Rosendorff et al., 19871. The apparent Twenty-three children had peripheral pancytopenia rarity of FA in blacks has been noted in the United at the time of diagnosis (Table11). Severe anemia (Hb
