Genetic variants at HbF-modifier loci moderate anemia and leukocytosis in sickle cell disease in Tanzania

American Journal of Hematology

Volumn 90, Issue 1, 2015, Pages E1-E4

  Mtatiro, Siana Nkya ^a,b   Makani, Julie ^a,c   Mmbando, Bruno ^a   Thein, Swee Lay ^d,e   Menzel, Stephan ^d   Cox, Sharon E ^a,f  

^a MUHIMBILI UNIVERSITY OF HEALTH AND ALLIED SCIENCES   (Tanzania)

^b UNIVERSITY OF DAR ES SALAAM   (Tanzania)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^f MEDICAL RESEARCH COUNCIL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HEMOGLOBIN; HEMOGLOBIN F;

ADOLESCENT; ADULT; ALLELE; ANEMIA; BLOOD; CHILD; FEMALE; GENE LOCUS; GENETICS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LEUKOCYTE COUNT; LEUKOCYTOSIS; MALE; PRESCHOOL CHILD; REGRESSION ANALYSIS; SEVERITY OF ILLNESS INDEX; SICKLE CELL ANEMIA; SINGLE NUCLEOTIDE POLYMORPHISM; TANZANIA; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; ANEMIA; ANEMIA, SICKLE CELL; CHILD; CHILD, PRESCHOOL; FEMALE; FETAL HEMOGLOBIN; GENETIC LOCI; HEMOGLOBINS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LEUKOCYTE COUNT; LEUKOCYTOSIS; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; REGRESSION ANALYSIS; SEVERITY OF ILLNESS INDEX; TANZANIA; YOUNG ADULT;

EID: 84919701590     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23859     Document Type: Article

References (33)

1. Makani J, Cox SE, Soka D, et al. Mortality in sickle cell anemia in Africa: A prospective cohort study in Tanzania. PLoS One 2011;6:e14699.
2. Platt OS, Brambilla DJ, Rosse WF, et al. Mortality in sickle cell disease. Life expectancy and risk factors for early death. N Engl J Med 1994;330:1639-1644.
3. Thein S. Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Hum Mol Genet 2009;18:R216-R223.
4. Menzel S, Jiang J, Silver N, et al. The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans. Blood 2007;110:3624-3626.
5. van der Harst P, Zhang W, Mateo Leach I, et al. Seventy-five genetic loci influencing the human red blood cell. Nature 2012;492:369-375.
6. Okada Y, Kamatani Y. Common genetic factors for hematological traits in humans. J Hum Genet 2012;57:161-169.
7. Ganesh SK, Zakai NA, van Rooij FJ, et al. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet 2009;41:1191-1198.
8. Kamatani Y, Matsuda K, Okada Y, et al. Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet 2010;42:210-215.
9. Ferreira MA, Hottenga JJ, Warrington NM, et al. Sequence variants in three loci influence monocyte counts and erythrocyte volume. Am J Hum Genet 2009;85:745-749.
10. Soranzo N, Spector TD, Mangino M, et al. A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet 2009;41:1182-1190.
11. Francis RB Jr. Platelets, coagulation, and fibrinolysis in sickle cell disease: Their possible role in vascular occlusion. Blood coagulation & fibrinolysis: an international journal in haemostasis and thrombosis 1991;2:341-353.
12. Ataga KI, Key NS. Hypercoagulability in sickle cell disease: New approaches to an old problem. Hematol Am Soc Hematol Educ Program 2007:91-96.
13. Robert B. Francis JaRPH. Hemostasis. In: Stephen H. Embury RPH, Mohandas N, Steinberg MH, editors. Sickle Cell Disease: Basic Principles and Clinical Practise. New York: Raven Press; 1994.
14. Sparkenbaugh E, Pawlinski R. Interplay between coagulation and vascular inflammation in sickle cell disease. Br J Haematol 2013;162:3-14.
15. Blau CA, Constantoulakis P, al-Khatti A, et al. Fetal hemoglobin in acute and chronic states of erythroid expansion. Blood 1993;81:227-233.
16. Swank RA, Stamatoyannopoulos G. Fetal gene reactivation. Curr Opin Genet Dev 1998;8:366-370.
17. Rees DC, Porter JB, Clegg JB, et al. Why are hemoglobin F levels increased in HbE/beta thalassemia? Blood 1999;94:3199-3204.
18. Dover GJ, Boyer SH. Fetal hemoglobin-containing cells have the same mean corpuscular hemoglobin as cells without fetal hemoglobin: A reciprocal relationship between gamma- and beta-globin gene expression in normal subjects and in those with high fetal hemoglobin production. Blood 1987;69:1109-1113.
19. Dover GJ, Boyer SH, Charache S, et al. Individual variation in the production and survival of F cells in sickle-cell disease. N Engl J Med 1978;299:1428-1435.
20. Franco RS, Yasin Z, Palascak MB, et al. The effect of fetal hemoglobin on the survival characteristics of sickle cells. Blood 2006;108:1073-1076.
21. Nagel RL, Platt OS. General pathophysiology of sickle cell anemia. In: Steinberg MH, Forget BG, Higgs DR, et al. editors. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge, UK: Cambridge University Press; 2001. pp 494-526.
22. Menzel S, Rooks H, Zelenika D, et al. Global genetic architecture of an erythroid quantitative trait locus, HMIP-2. Ann Hum Genet 2014.
23. Creary LE, Ulug P, Menzel S, et al. Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients. PLoS One 2009;4:e4218.
24. Makani J, Menzel S, Nkya S, et al. Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. Blood 2011;117:1390-1392.
25. Cox SE, Makani J, Soka D, et al. Haptoglobin, alpha-thalassaemia and glucose-6-phosphate dehydrogenase polymorphisms and risk of abnormal transcranial Doppler among patients with sickle cell anaemia in Tanzania. Br J Haematol 2014;165:699-706.
26. Donaldson A, Thomas P, Serjeant BE, et al. Foetal haemoglobin in homozygous sickle cell disease: A study of patients with low HBF levels. Clin Lab Haematol 2001;23:285-289.
27. Maude GH, Hayes RJ, Serjeant GR. The haematology of steady state homozygous sickle cell disease: Interrelationships between haematological indices. Br J Haematol 1987;66:549-558.
28. Olatunji PO, Davies SC. The predictive value of white cell count in assessing clinical severity of sickle cell anaemia in Afro-Caribbeans patients. Afr J Med Med Sci 2000;29:27-30.
29. Ikuta T, Adekile AD, Gutsaeva DR, et al. The proinflammatory cytokine GM-CSF downregulates fetal hemoglobin expression by attenuating the cAMP-dependent pathway in sickle cell disease. Blood Cells Mol Dis 2011;47:235-242.
30. Thein SL, Menzel S. Discovering the genetics underlying foetal haemoglobin production in adults. Br J Haematol 2009;145:455-467.
31. Rahimi Z, Karimi M, Haghshenass M, et al. Beta-globin gene cluster haplotypes in sickle cell patients from southwest Iran. Am J Hematol 2003;74:156-160.
32. Padmos MA, Roberts GT, Sackey K, et al. Two different forms of homozygous sickle cell disease occur in Saudi Arabia. Br J Haematol 1991;79:93-98.
33. Gilman JG, Huisman TH. DNA sequence variation associated with elevated fetal G gamma globin production. Blood 1985;66:783-787.