Sickle Cell Anaemia: Errors in Haemoglobin Genotyping: Impact on Parents of Children Attending Two Hospitals in South East Nigeria
Affiliation(s)
1 College of Medicine, Department of Pediatrics, University of Nigeria, Nsukka, Nigeria. 2 University of Nigeria Teaching Hospital (UNTH), Ituku, Nigeria. 3 College of Medicine, Ebonyi State University, Abakalki, Nigeria. 4 Department of Pediatrics, Federal Teaching Hospital, Abakiliki (FETHA), Abakiliki, Nigeria. 5 College of Medicine, Department of Community Medicine, Enugu State University of Science and Technology, Enugu, Nigeria.
1 College of Medicine, Department of Pediatrics, University of Nigeria, Nsukka, Nigeria. 2 University of Nigeria Teaching Hospital (UNTH), Ituku, Nigeria. 3 College of Medicine, Ebonyi State University, Abakalki, Nigeria. 4 Department of Pediatrics, Federal Teaching Hospital, Abakiliki (FETHA), Abakiliki, Nigeria. 5 College of Medicine, Department of Community Medicine, Enugu State University of Science and Technology, Enugu, Nigeria.
ABSTRACT
Objectives: The study is aimed at determining
that errors in assigning genotypes to intending couples do exist; and the
impact of these errors on parents. Methods: The study was conducted at the
children clinics in Enugu and Abakiliki, south east Nigeria. It is a
cross-sectional retrospective study in which a review of the records of all the
children attending 2 private clinics in Enugu and Abakaliki of Enugu and Ebonyi
states respectively, over a 3-year period was done. Results: A total of 6006
children attended the children clinics over the study period. Twenty three (23)
of them had sickle cell anaemia. Out of the 23 cases 10 (43.5%) were males and
13 (56.5%) were females. Male to female ratio was 1:1.3. The commonest features
were abdominal and leg pains, involving 20 (87%) and 21 (91.3 %) respectively.
Among the 23 parents that had their genotypes repeated, 9 males had different
genotypes from what they had during courtship or before marriage. The genotypes
of all the females that could recall their genotypes before marriage or during
courtship were the same after a repeat test. Conclusions: There exist errors in
assigning genotypes to parents which at the end made them have children with
sickle cell anemia, unwittingly, with serious consequences bordering on
strained relationship between the parents with the children bearing the brunt.
Cite this paper
Chinawa, J. , Manyike, P. , Aronu, A. , Obu, H. , Chinawa, A. , (2015) Sickle Cell Anaemia: Errors in Haemoglobin Genotyping: Impact on Parents of Children Attending Two Hospitals in South East Nigeria. Open Journal of Pediatrics, 5, 7-11. doi: 10.4236/ojped.2015.51002.
Chinawa, J. , Manyike, P. , Aronu, A. , Obu, H. , Chinawa, A. , (2015) Sickle Cell Anaemia: Errors in Haemoglobin Genotyping: Impact on Parents of Children Attending Two Hospitals in South East Nigeria. Open Journal of Pediatrics, 5, 7-11. doi: 10.4236/ojped.2015.51002.
References
[1] Quirolo, K. and Vichinsky, E. (2004) Haemoglobin Disorders. In: Behrmen, R.E., Kliegman, E.M., Jenson, H.B., Eds., Nelson Text Book of Paediatrics, 17th Edition, Saunders Company, Philadephia, 1623-1634. [2] Livingstone, F.B. (1975) Abnormal Haemoglobins in Human Populations. Vol. 25, Aldine, Chicago, 1-12. [3] Araba, A.B. (1976) A Survey of Haematological Variable in 600 Healthy Nigerians. Nigerian Medical Journal, 6, 49-53. [4] Kambel, M. and Chatravedep, P. (2000) Epidemiology of Sickle Cell Disease in a Rural Hospital of Central India. India J Paediatr, 37, 391-396. [5] Ebong, WW. (1977) Avascular Necrosis of the femoral Head Associated with Haemoglobinopathy. Trop Geogr Med, 29, 19-23. [6] Ohene-Frempong, K., Weiner, S.J., Sleeper, L.A., Miller, S.T., Embury, S., Moohr, J.W., kinney, S.T. and Platt, O.S. (1998) Cerebrovascular Accidents in Sickle Cell Disease: Rates and Risk Factors. Blood, 9, 288-294. [7] Genotyping—Wikipedia, the Free Encyclopedia. http://en.wikipedia.org/wiki/Genotyping [8] Abecasis, G.R., Cherny, S.S. and Cardon, L.R. (2001) The Impact of Genotyping Error on Family-Based Analysis of Quantitative Traits. European Journal of Human Genetics, 9, 130-134.
http://dx.doi.org/10.1038/sj.ejhg.5200594 [9] Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2002) Merlin— Rapid Analysis of Dense Genetic Maps Using Sparse Gene Flow Trees. Nature Genetics, 30, 97-101.
http://dx.doi.org/10.1038/ng786 [10] Akey, J.M., Zhang, K., Xiong, M., Doris, P. and Jin, L. (2001) The Effect That Genpyping Errors Have on the Robiustness of Common Linkage Disequilibrium Measures. The American Journal of Human Genetics, 68, 1447-1456. http://dx.doi.org/10.1086/320607 [11] National Population Commission (2006) Provisional Census Figures. Census News, 31, 14. [12] Roberts, S., Kenneth, A. and Henry, M. (2005) Measurement of Coagulation Factors. In: Marc, S., Robert, P. and Patrick, C., Eds., Haematology in Clinical Practice, 4th Edition, McGraw-Hill Medical Publishers, London, 329-330. [13] Oyedeji, G.A. (1985) Socio-Economic and Cultural Background of Hospitalized Children in Ilesha. Nigerian Journal of Paediatrics, 12, 111-117. [14] Organizacao Mundial de Saúde (2006) Sickle-Cell Anaemia. 59th World Health Assembly, 11, 26-27. [15] Chinawa, J.M., Chukwu, B.F., Ikefuna, A.N. and Emodi, I.J. (2013) Musculoskeletal Complications among Children with Sickle Cell Admitted in University of Nigeria Teaching Hospital Ituku-Ozalla Enugu: A 58 Month Review. Annals of Medical & Health Science Research, 3, 564-567.
http://dx.doi.org/10.4103/2141-9248.122110 [16] What Gender Does Sickle Cell Affect? http://www.answers.com/Q/What_gender_does_Sickle_cell_affect [17] Ikefuna, A.N. and Emodi, I.J. (2007) Hospital Admission of Patients with Sickle Cell Anaemia Pattern and Outcome in Enugu Area of Nigeria. Nigerian Journal of Clinical Practice, 10, 24-29. [18] Okany, C.C. and Akinyanju, O.O. (1993) The Influence of Socio-Economic Status on the Severity of Sickle Cell Disease. African Journal of Medicine and Medical Sciences, 22, 57-60. [19] Pompanon, F., Bonin, A., Bellemain, E. and Taberlet, P. (2005) Genotyping Errors: Causes, Consequences and Solutions. Nature Reviews Genetics, 6, 847-846. http://dx.doi.org/10.1038/nrg1707 [20] Kennedy, G.C., Matsuzaki, H., Dong, S.L., Liu, W.-M., Huang, J., et al (2003) Large-Scale Genotyping of Complex DNA. Nature Biotechnology, 21, 1233-1237. http://dx.doi.org/10.1038/nbt869 [21] Matsuzaki, H., Loi, H., Dong, S.L., Tsai, Y.-Y., Fang, J., Law, J., et al. (2005) Parallel Genotyping of over 10,000 SNPs Using a One-Primer Assay on a High-Density Oligonucleotide Array. Genome Research, 14, 414-425. http://dx.doi.org/10.1101/gr.2014904
[1] Quirolo, K. and Vichinsky, E. (2004) Haemoglobin Disorders. In: Behrmen, R.E., Kliegman, E.M., Jenson, H.B., Eds., Nelson Text Book of Paediatrics, 17th Edition, Saunders Company, Philadephia, 1623-1634. [2] Livingstone, F.B. (1975) Abnormal Haemoglobins in Human Populations. Vol. 25, Aldine, Chicago, 1-12. [3] Araba, A.B. (1976) A Survey of Haematological Variable in 600 Healthy Nigerians. Nigerian Medical Journal, 6, 49-53. [4] Kambel, M. and Chatravedep, P. (2000) Epidemiology of Sickle Cell Disease in a Rural Hospital of Central India. India J Paediatr, 37, 391-396. [5] Ebong, WW. (1977) Avascular Necrosis of the femoral Head Associated with Haemoglobinopathy. Trop Geogr Med, 29, 19-23. [6] Ohene-Frempong, K., Weiner, S.J., Sleeper, L.A., Miller, S.T., Embury, S., Moohr, J.W., kinney, S.T. and Platt, O.S. (1998) Cerebrovascular Accidents in Sickle Cell Disease: Rates and Risk Factors. Blood, 9, 288-294. [7] Genotyping—Wikipedia, the Free Encyclopedia. http://en.wikipedia.org/wiki/Genotyping [8] Abecasis, G.R., Cherny, S.S. and Cardon, L.R. (2001) The Impact of Genotyping Error on Family-Based Analysis of Quantitative Traits. European Journal of Human Genetics, 9, 130-134.
http://dx.doi.org/10.1038/sj.ejhg.5200594 [9] Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2002) Merlin— Rapid Analysis of Dense Genetic Maps Using Sparse Gene Flow Trees. Nature Genetics, 30, 97-101.
http://dx.doi.org/10.1038/ng786 [10] Akey, J.M., Zhang, K., Xiong, M., Doris, P. and Jin, L. (2001) The Effect That Genpyping Errors Have on the Robiustness of Common Linkage Disequilibrium Measures. The American Journal of Human Genetics, 68, 1447-1456. http://dx.doi.org/10.1086/320607 [11] National Population Commission (2006) Provisional Census Figures. Census News, 31, 14. [12] Roberts, S., Kenneth, A. and Henry, M. (2005) Measurement of Coagulation Factors. In: Marc, S., Robert, P. and Patrick, C., Eds., Haematology in Clinical Practice, 4th Edition, McGraw-Hill Medical Publishers, London, 329-330. [13] Oyedeji, G.A. (1985) Socio-Economic and Cultural Background of Hospitalized Children in Ilesha. Nigerian Journal of Paediatrics, 12, 111-117. [14] Organizacao Mundial de Saúde (2006) Sickle-Cell Anaemia. 59th World Health Assembly, 11, 26-27. [15] Chinawa, J.M., Chukwu, B.F., Ikefuna, A.N. and Emodi, I.J. (2013) Musculoskeletal Complications among Children with Sickle Cell Admitted in University of Nigeria Teaching Hospital Ituku-Ozalla Enugu: A 58 Month Review. Annals of Medical & Health Science Research, 3, 564-567.
http://dx.doi.org/10.4103/2141-9248.122110 [16] What Gender Does Sickle Cell Affect? http://www.answers.com/Q/What_gender_does_Sickle_cell_affect [17] Ikefuna, A.N. and Emodi, I.J. (2007) Hospital Admission of Patients with Sickle Cell Anaemia Pattern and Outcome in Enugu Area of Nigeria. Nigerian Journal of Clinical Practice, 10, 24-29. [18] Okany, C.C. and Akinyanju, O.O. (1993) The Influence of Socio-Economic Status on the Severity of Sickle Cell Disease. African Journal of Medicine and Medical Sciences, 22, 57-60. [19] Pompanon, F., Bonin, A., Bellemain, E. and Taberlet, P. (2005) Genotyping Errors: Causes, Consequences and Solutions. Nature Reviews Genetics, 6, 847-846. http://dx.doi.org/10.1038/nrg1707 [20] Kennedy, G.C., Matsuzaki, H., Dong, S.L., Liu, W.-M., Huang, J., et al (2003) Large-Scale Genotyping of Complex DNA. Nature Biotechnology, 21, 1233-1237. http://dx.doi.org/10.1038/nbt869 [21] Matsuzaki, H., Loi, H., Dong, S.L., Tsai, Y.-Y., Fang, J., Law, J., et al. (2005) Parallel Genotyping of over 10,000 SNPs Using a One-Primer Assay on a High-Density Oligonucleotide Array. Genome Research, 14, 414-425. http://dx.doi.org/10.1101/gr.2014904