Red blood cell indices and prevalence of hemoglobinopathies and glucose 6 phosphate dehydrogenase deficiencies in male tanzanian residents of dar es salaam

International Journal of Molecular Epidemiology and Genetics

Volumn 5, Issue 4, 2014, Pages 185-194

  Mwakasungula, Solomon ^a,b,c   Schindler, Tobias ^a,b   Jongo, Said ^c   Moreno, Elena ^c   Kamaka, Kasimu ^c   Mohammed, Mgeni ^c   Joseph, Selina ^c   Rashid, Ramla ^c   Athuman, Thabit ^c   Tumbo, Anneth Mwasi ^c   Hamad, Ali ^c   Lweno, Omar ^c   Tanner, Marcel ^a,b   Shekalaghe, Seif ^c   Daubenberger, Claudia A ^a,b  

^a SWISS TROPICAL AND PUBLIC HEALTH INSTITUTE   (Switzerland)

^b UNIVERSITY OF BASEL   (Switzerland)

^c IFAKARA HEALTH INSTITUTE   (Tanzania)

Author keywords

Glucose 6 phosphate dehydrogenase deficiency; Malaria; Mean corpuscular hemoglobin; Screening; Sickle cell trait; Tanzania; Whole blood count; thalassemia

Indexed keywords

ALPHA THALASSEMIA; ARTICLE; DNA EXTRACTION; ERYTHROCYTE COUNT; GENE LOCUS; GENOTYPING TECHNIQUE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HEMATOCRIT; HEMOGLOBIN DETERMINATION; HEMOGLOBINOPATHY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALARIA; MALE; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; POLYMERASE CHAIN REACTION; PREVALENCE; RECEIVER OPERATING CHARACTERISTIC; SENSITIVITY AND SPECIFICITY; SICKLE CELL TRAIT; SURVIVAL; TANZANIA;

EID: 84922276053     PISSN: None     EISSN: 19481756     Source Type: Journal    
DOI: None     Document Type: Article

References (42)

1. Williams TN and Weatherall DJ. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harb Perspect Med 2012; 2: a011692.
2. Weatherall DJ. Thalassemia as a global health problem: recent progress toward its control in the developing countries. Annals of the New York Academy of Sciences 2010; 1202: 17-23.
3. Bunn HF. Pathogenesis and treatment of sickle cell disease. N Engl J Med 1997; 337: 762-769.
4. Piel FB, Patil AP, Howes RE, Nyangiri OA, Gething PW, Williams TN, Weatherall DJ and Hay SI. Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis. Nat Commun 2010; 1: 104.
5. Serjeant GR. The natural history of sickle cell disease. Cold Spring Harb Perspect Med 2013; 3: a011783.
6. Oppenheimer SJ, Higgs DR, Weatherall DJ, Barker J and Spark RA. Alpha thalassaemia in Papua New Guinea. Lancet 1984; 1: 424-426.
7. Higgs DR and Weatherall DJ. The alpha thalassaemias. Cell Mol Life Sci 2009; 66: 1154-1162.
8. Harteveld CL and Higgs DR. α-thalassaemia. Orphanet J Rare Dis 2010; 5: 13.
9. Benmansour I, Moradkhani K, Moumni I, Wajcman H, Hafsia R, Ghanem A, Abbes S and Prehu C. Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia. Blood Cells Mol Dis 2013; 50: 110-114.
10. Mason PJ, Bautista JM and Gilsanz F. G6PD deficiency: the genotype-phenotype association. Blood Rev 2007; 21: 267-283.
11. Beutler E. G6PD deficiency. Blood 1994; 84: 3613-3636.
12. Howes RE, Battle KE, Satyagraha AW, Baird JK and Hay SI. G6PD deficiency: global distribution, genetic variants and primaquine therapy. Adv Parasitol 2013; 81: 133-201.
13. Seder RA, Chang LJ, Enama ME, Zephir KL, Sarwar UN, Gordon IJ, Holman LA, James ER, Billingsley PF, Gunasekera A, Richman A, Chakravarty S, Manoj A, Velmurugan S, Li M, Ruben AJ, Li T, Eappen AG, Stafford RE, Plummer SH, Hendel CS, Novik L, Costner PJ, Mendoza FH, Saunders JG, Nason MC, Richardson JH, Murphy J, Davidson SA, Richie TL, Sedegah M, Sutamihardja A, Fahle GA, Lyke KE, Laurens MB, Roederer M, Tewari K, Epstein JE, Sim BK, Ledgerwood JE, Graham BS and Hoffman SL. Protection against malaria by intravenous immunization with a nonreplicating sporozoite vaccine. Science 2013; 341: 1359-1365.
14. Shekalaghe S, Rutaihwa M, Billingsley PF, Chemba M, Daubenberger CA, James ER, Mpina M, Ali Juma O, Schindler T, Huber E, Gunasekera A, Manoj A, Simon B, Saverino E, Church LW, Hermsen CC, Sauerwein RW, Plowe C, Venkatesan M, Sasi P, Lweno O, Mutani P, Hamad A, Mohammed A, Urassa A, Mzee T, Padilla D, Ruben A, Sim BK, Tanner M, Abdulla S and Hoffman SL. Controlled Human Malaria Infection of Tanzanians by Intradermal Injection of Aseptic, Purified, Cryopreserved Plasmodium falciparum Sporozoites. Am J Trop Med Hyg 2014; 91: 471-480.
15. Veenemans J, Andang’O PE, Mbugi EV, Kraaijenhagen RJ, Mwaniki DL, Mockenhaupt FP, Roewer S, Olomi RM, Shao JF, van der Meer JW, Savelkoul HF and Verhoef H. Alpha+ -thalassemia protects against anemia associated with asymptomatic malaria: evidence from community-based surveys in Tanzania and Kenya. J Infect Dis 2008; 198: 401-408.
16. Veenemans J, Jansen EJ, Baidjoe AY, Mbugi EV, Demir AY, Kraaijenhagen RJ, Savelkoul HF and Verhoef H. Effect of alpha(+)-thalassaemia on episodes of fever due to malaria and other causes: a community-based cohort study in Tanzania. Malar J 2011; 10: 280.
17. Clark BE and Thein SL. Molecular diagnosis of haemoglobin disorders. Clin Lab Haematol 2004; 26: 159-176.
18. Tan AS, Quah TC, Low PS and Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. Blood 2001; 98: 250-251.
19. R Foundation for Statistical Computing. Development Core Team. R: A language and environment for statistical computing. home page; http://www.R-project.org. 2008.
20. Ruopp MD, Perkins NJ, Whitcomb BW and Schisterman EF. Youden Index and optimal cut-point estimated from observations affected by a lower limit of detection. Biom J 2008; 50: 419-430.
21. Taylor SM, Cerami C and Fairhurst RM. Hemoglobinopathies: slicing the Gordian knot of Plasmodium falciparum malaria pathogenesis. PLoS Pathog 2013; 9: e1003327.
22. Williams TN. Human red blood cell polymorphisms and malaria. Curr Opin Microbiol 2006; 9: 388-394.
23. Williams TN, Wambua S, Uyoga S, Macharia A, Mwacharo JK, Newton CR and Maitland K. Both heterozygous and homozygous alpha+ thalassemias protect against severe and fatal Plasmodium falciparum malaria on the coast of Kenya. Blood 2005; 106: 368-371.
24. Enevold A, Alifrangis M, Sanchez JJ, Carneiro I, Roper C, Borsting C, Lusingu J, Vestergaard LS, Lemnge MM, Morling N, Riley E and Drakeley CJ. Associations between alpha+-thalassemia and Plasmodium falciparum malarial infection in northeastern Tanzania. J Infect Dis 2007; 196: 451-459.
25. Maheu-Giroux M and Castro MC. Impact of community-based larviciding on the prevalence of malaria infection in Dar es Salaam, Tanzania. PLoS One 2013; 8: e71638.
26. Piel FB, Hay SI, Gupta S, Weatherall DJ and Williams TN. Global burden of sickle cell anaemia in children under five, 2010-2050: modelling based on demographics, excess mortality, and interventions. PLoS Med 2013; 10: e1001484.
27. Pranpanus S, Sirichotiyakul S, Srisupundit K and Tongsong T. Sensitivity and specificity of mean corpuscular hemoglobin (MCH): for screening alpha-thalassemia-1 trait and beta-thalassemia trait. J Med Assoc Thai 2009; 92: 739-743.
28. Shekalaghe S, Alifrangis M, Mwanziva C, Enevold A, Mwakalinga S, Mkali H, Kavishe R, Manjurano A, Sauerwein R, Drakeley C and Bousema T. Low density parasitaemia, red blood cell polymorphisms and Plasmodium falciparum specific immune responses in a low endemic area in northern Tanzania. BMC Infect Dis 2009; 9: 69.
29. Segeja MD, Mmbando BP, Kamugisha ML, Akida JA, Savaeli ZX, Minja DT, Msangeni HA and Lemnge MM. Prevalence of glucose-6-phosphate dehydrogenase deficiency and haemoglobin S in high and moderate malaria transmission areas of Muheza, north-eastern Tanzania. Tanzan J Health Res 2008; 10: 9-13.
30. Pierce HI, Kurachi S, Sofroniadou K and Stamatoyannopoulos G. Frequencies of thalassemia in American blacks. Blood 1977; 49: 981-986.
31. Liao C, Xie XM, Zhong HZ, Zhou JY and Li DZ. Proposed screening criteria for beta-thalassemia trait during early pregnancy in southern China. Hemoglobin 2009; 33: 528-533.
32. Karimi M and Rasekhi AR. Efficiency of premarital screening of beta-thalassemia trait using MCH rather than MCV in the population of Fars Province, Iran. Haematologia (Budap) 2002; 32: 129-133.
33. Hashemizadeh H and Noori R. Premarital Screening of Beta Thalassemia Minor in north-east of Iran. Iran J Ped Hematol Oncol 3: 210-215.
34. Pranpanus S, Sirichotiyakul S, Srisupundit K, Tongsong T. Sensitivity and specificity of mean corpuscular hemoglobin (MCH): for screening alpha-thalassemia-1 trait and beta-thalassemia trait. J Med Assoc Thail Chotmaihet Thangphaet 2009; 92: 739-743.
35. Sorour Y, Heppinstall S, Porter N, Wilson GA, Goodeve AC, Rees D and Wright J. Is routine molecular screening for common alpha-thalassaemia deletions necessary as part of an antenatal screening programme? J Med Screen 2007; 14: 60-61.
36. Saathoff E, Schneider P, Kleinfeldt V, Geis S, Haule D, Maboko L, Samky E, de Souza M, Robb M and Hoelscher M. Laboratory reference values for healthy adults from southern Tanzania. Trop Med Int Health 2008; 13: 612-625.
37. Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood 2010; 115: 4331-4336.
38. Fattoum S. Evolution of hemoglobinopathy prevention in Africa: results, problems and prospect. Mediterr J Hematol Infect Dis 2009; 1: e2009005.
39. Noor AM, Kinyoki DK, Mundia CW, Kabaria CW, Mutua JW, Alegana VA, Fall IS and Snow RW. The changing risk of Plasmodium falciparum malaria infection in Africa: 2000-10: a spatial and temporal analysis of transmission intensity. Lancet 2014; 383: 1739-1747.
40. Weatherall DJ. The challenge of haemoglobinopathies in resource-poor countries. Br J Haematol 2011; 154: 736-744.
41. Zlotogora J. Population programs for the detection of couples at risk for severe monogenic genetic diseases. Hum Genet 2009; 126: 247-253.
42. White NJ, Pukrittayakamee S, Hien TT, Faiz MA, Mokuolu OA and Dondorp AM. Malaria. Lancet 2014; 383: 723-735.