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May 26, 1989, Vol 261, No. 20 >
ARTICLE | May 26, 1989

Nonblack Patients With Sickle Cell Disease Have African βs Gene Cluster Haplotypes FREE

Zora R. Rogers, MD; Darleen R. Powars, MD; Thomas R. Kinney, MD; W. Donald Williams, MD; Walter A. Schroeder, PhD
[+] Author Affiliations

Reprint requests to Los Angeles County/University of Southern California Medical Center, 1129 N State St, Room 2E19, Los Angeles, CA 90033 (Dr Powars).


JAMA. 1989;261(20):2991-2994. doi:10.1001/jama.1989.03420200081042
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References

Of 18 nonblack patients with sickle cell disease, 14 had sickle cell anemia, 2 had hemoglobin SC disease, and 2 had hemoglobin S-β°-thalassemia. The βs gene cluster haplotypes that were determined in 7 patients were of African origin and were identified as Central African Republic, Central African Republic minor II, Benin, and Senegal. The haplotype Central African Republic minor II was present on the β°-thalassemia. chromosome in 2 patients. None of 10 patients whose α-gene status was determined had α-thalassemia-2. These data strongly support the concept that the βs gene on chromosome 11 of these individuals is of African origin and that the α-gene locus on chromosome 16 is of white or native American origin. The clinical severity of the disease in these nonblack patients is appropriate to their haplotype without α-thalassemia-2 and is comparable with that of black patients. All persons with congenital hemolytic anemia should be examined for the presence of sickle cell disease regardless of physical appearance or ethnic background.

(JAMA. 1989;261:2991-2994)

REFERENCES

1 +
Cooley TB, Lee P.  Sickle cell anemia in a Greek family . AJDC. 1929;;38:103-106.
2 +
Cooke JV, MackJK.  Sickle cell anemia in a white American family . J Pediatr. 1934;;5:601-607.
3 +
Lehmann H, Huntsman RG. Man's Hemoglobins . 2nd ed. Amsterdam: North Holland Publishing Co; 1974;.
4 +
Campbell JJ, Oski FA.  Sickle cell anemia in an American white boy of Greek ancestry . AJDC. 1977;;131:186-187.
5 +
Benjamin JT, Gootenberg JE.  Severe manifestations of sickle cell anemia in a white American child . Clin Pediatr. 1987;;26:648-650.
6 +
Noronha PA, Honig GR.  Sickle cell anemia in two white American children: essential laboratory criteria for diagnosis . Pediatrics. 1979;;63:242-246.
7 +
Antonarakis SE, Boehm CD, Serjeant GR, Theisen CE, Dover GJ, Kazazian HH Jr.  Origin of the βs globin gene in Blacks: the contribution of recurrent mutation or gene conversion or both . Proc Natl Acad Sci USA. 1984;;81:853-856.
8 +
Wainscoat JS, Bell JI, Thein SL, et al.  Multiple origins of the sickle mutation: evidence from βs globin gene cluster polymorphisms . Mol Biol Med. 1983;;1:191-197.
9 +
Nagel RL, Fabry ME, Pagnier J, et al.  Hematologically and genetically distinct forms of sickle cell anemia in Africa: the Senegal type and the Benin type . N Engl J Med. 1985;;312:880-884.
10 +
Orkin SH, Kazazian HH Jr.  The mutation and polymorphism of the human β-globin gene and its surrounding DNA . Ann Rev Genet. 1984;;18:131-171.
11 +
Pagnier J, Mears JG, Dunda-Belkhodja O, et al.  Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa . Proc Natl Acad Sci USA. 1984;;81:1771-1773.
12 +
Boyer SH, Panny SR, Smith KD, Dover GJ.  How many ancestral mutations have led to the hemoglobin A-S polymorphism: approaches to an anemia . Popul Biol Aspects Hum Mutat. 1981;; 35-47.
13 +
Chebloune Y, Pagnier J, Trabuchet G, et al.  Structural analysis of the 5′ flanking region of the β-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa . Proc Natl Acad Sci USA. 1988;;85:4431-4435.
14 +
Powars DR, Weiss JN, Chan LS, Schroeder WA.  Is there a threshold level of fetal hemoglobin that ameliorates morbidity in sickle cell anemia? Blood . 1984;;63:921-926.
15 +
Powars D, Weidman JA, Odom-Maryon T, Niland JC, John C.  Sickle cell chronic lung disease: prior morbidity and the risk of pulmonary failure . Medicine . 1988;;67:66-76.
16 +
Schroeder WA, Huisman THJ. The Chromatography of Hemoglobin . New York, NY: Marcel Dekker Inc; 1980;.
17 +
Labie D, Pagnier J, Lapoumeroulie C, et al.  Common haplotype dependency of high γ-globin gene expression and high HbF levels in beta thalassemia and sickle cell anemia patients . Proc Natl Acad Sci USA. 1985;;82:2111-2114.
18 +
Nagel RL, Rao SK, Dunda-Belkhodja O, et al.  The hematological characteristics of sickle cell anemia bearing the Bantu haplotype: the relationship between γ and HbF level . Blood . 1987;;69:1026-1031.
19 +
Miller BA, Salameh M, Ahmed M, et al.  High fetal hemoglobin production in sickle cell anemia in the eastern province of Saudi Arabia is genetically determined . Blood . 1986;;67:1404-1410.
20 +
Ewing N, Powars D, Hilburn J, Schroeder WA.  Newborn diagnosis of abnormal hemoglobins from a large municipal hospital in Los Angeles . Am J Public Health . 1981;;71:629-631.
21 +
Powars D, Schroeder WA, Chan L, Kay L.  The Senegalese subhaplotype results in decreased morbidity in patients with sickle cell anemia . Blood . 1986;;68( (suppl 1) ):64a.
22 +
Curtin PD. The Atlantic Slave Trade . Madison: University of Wisconsin Press; 1969;.
23 +
Eaton WA, Hofrichter J.  Hemoglobin S gelation and sickle cell disease . Blood . 1987;;70:1245-1266.
24 +
Embury SH, Clark MR, Monroy G, Mohandas N.  Concurrent sickle cell anemia and α-thalassemia: effect on pathological properties of sickle erythrocytes . J Clin Invest. 1984;;73:116-123.
25 +
Powars D, Overturf G, Weiss J, Lee S, Chan L.  Pneumococcal septicemia in children with sickle cell anemia: changing trend of survival . JAMA. 1981;;245:1839-1842.
26 +
Gaston MH, Verter JI, Woods G, et al.  Oral prophylaxis with penicillin in children with sickle cell anemia: a randomized trial . N Engl J Med. 1986;;314:1593-1599.

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1 +
Cooley TB, Lee P.  Sickle cell anemia in a Greek family . AJDC. 1929;;38:103-106.
2 +
Cooke JV, MackJK.  Sickle cell anemia in a white American family . J Pediatr. 1934;;5:601-607.
3 +
Lehmann H, Huntsman RG. Man's Hemoglobins . 2nd ed. Amsterdam: North Holland Publishing Co; 1974;.
4 +
Campbell JJ, Oski FA.  Sickle cell anemia in an American white boy of Greek ancestry . AJDC. 1977;;131:186-187.
5 +
Benjamin JT, Gootenberg JE.  Severe manifestations of sickle cell anemia in a white American child . Clin Pediatr. 1987;;26:648-650.
6 +
Noronha PA, Honig GR.  Sickle cell anemia in two white American children: essential laboratory criteria for diagnosis . Pediatrics. 1979;;63:242-246.
7 +
Antonarakis SE, Boehm CD, Serjeant GR, Theisen CE, Dover GJ, Kazazian HH Jr.  Origin of the βs globin gene in Blacks: the contribution of recurrent mutation or gene conversion or both . Proc Natl Acad Sci USA. 1984;;81:853-856.
8 +
Wainscoat JS, Bell JI, Thein SL, et al.  Multiple origins of the sickle mutation: evidence from βs globin gene cluster polymorphisms . Mol Biol Med. 1983;;1:191-197.
9 +
Nagel RL, Fabry ME, Pagnier J, et al.  Hematologically and genetically distinct forms of sickle cell anemia in Africa: the Senegal type and the Benin type . N Engl J Med. 1985;;312:880-884.
10 +
Orkin SH, Kazazian HH Jr.  The mutation and polymorphism of the human β-globin gene and its surrounding DNA . Ann Rev Genet. 1984;;18:131-171.
11 +
Pagnier J, Mears JG, Dunda-Belkhodja O, et al.  Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa . Proc Natl Acad Sci USA. 1984;;81:1771-1773.
12 +
Boyer SH, Panny SR, Smith KD, Dover GJ.  How many ancestral mutations have led to the hemoglobin A-S polymorphism: approaches to an anemia . Popul Biol Aspects Hum Mutat. 1981;; 35-47.
13 +
Chebloune Y, Pagnier J, Trabuchet G, et al.  Structural analysis of the 5′ flanking region of the β-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa . Proc Natl Acad Sci USA. 1988;;85:4431-4435.
14 +
Powars DR, Weiss JN, Chan LS, Schroeder WA.  Is there a threshold level of fetal hemoglobin that ameliorates morbidity in sickle cell anemia? Blood . 1984;;63:921-926.
15 +
Powars D, Weidman JA, Odom-Maryon T, Niland JC, John C.  Sickle cell chronic lung disease: prior morbidity and the risk of pulmonary failure . Medicine . 1988;;67:66-76.
16 +
Schroeder WA, Huisman THJ. The Chromatography of Hemoglobin . New York, NY: Marcel Dekker Inc; 1980;.
17 +
Labie D, Pagnier J, Lapoumeroulie C, et al.  Common haplotype dependency of high γ-globin gene expression and high HbF levels in beta thalassemia and sickle cell anemia patients . Proc Natl Acad Sci USA. 1985;;82:2111-2114.
18 +
Nagel RL, Rao SK, Dunda-Belkhodja O, et al.  The hematological characteristics of sickle cell anemia bearing the Bantu haplotype: the relationship between γ and HbF level . Blood . 1987;;69:1026-1031.
19 +
Miller BA, Salameh M, Ahmed M, et al.  High fetal hemoglobin production in sickle cell anemia in the eastern province of Saudi Arabia is genetically determined . Blood . 1986;;67:1404-1410.
20 +
Ewing N, Powars D, Hilburn J, Schroeder WA.  Newborn diagnosis of abnormal hemoglobins from a large municipal hospital in Los Angeles . Am J Public Health . 1981;;71:629-631.
21 +
Powars D, Schroeder WA, Chan L, Kay L.  The Senegalese subhaplotype results in decreased morbidity in patients with sickle cell anemia . Blood . 1986;;68( (suppl 1) ):64a.
22 +
Curtin PD. The Atlantic Slave Trade . Madison: University of Wisconsin Press; 1969;.
23 +
Eaton WA, Hofrichter J.  Hemoglobin S gelation and sickle cell disease . Blood . 1987;;70:1245-1266.
24 +
Embury SH, Clark MR, Monroy G, Mohandas N.  Concurrent sickle cell anemia and α-thalassemia: effect on pathological properties of sickle erythrocytes . J Clin Invest. 1984;;73:116-123.
25 +
Powars D, Overturf G, Weiss J, Lee S, Chan L.  Pneumococcal septicemia in children with sickle cell anemia: changing trend of survival . JAMA. 1981;;245:1839-1842.
26 +
Gaston MH, Verter JI, Woods G, et al.  Oral prophylaxis with penicillin in children with sickle cell anemia: a randomized trial . N Engl J Med. 1986;;314:1593-1599.

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