Significance of Red Cell Count for the Detection of Thalassemia Minor
Author's: Maliha Hamid, Benish Nawaz, Naheed Afshan
Corresponding Author: Naheed Afshan
Corresponding Author Email: firstname.lastname@example.org
Article Type: Research Article
Published Online: May. 05, 2016
Thalassemia minor is known to be a hereditary disease involving affected globin chains. In Thalassemia minor, the fetus inherits haemoglobin genes during fertilization, each from the mother and the father, respectively. Individuals with a defect in one gene are known as carriers of Thalassemia minor. There are different procedures available for the detection of Thalassemia minor but most of them are expensive, so a study was designed at Microbiology department of Jinnah University for Women to check the total RBC count of known Thalassemia minor patients. In this study, one hundred (100) blood samples of known Thalassemia minor individuals were collected. The results showed increased levels of red cell count in Thalassemia minor patients as compared to the controls (normal persons) which were correlated with naked-eye single tube Red cell osmotic fragility test (NESTROFT). The results were further confirmed by the evaluation of red cell indices by complete blood count test. Thalassemia minor patients have hypochromic microcytic red blood cells with increased red blood cell number and they may have mild anemia but are usually asymptomatic. The main purpose of this study is to give awareness to our community about Thalassemia minor and its cheap diagnosis which can differentiate it from other types of anemia.
Thalassemia, heterozygous, microcytosis, anemia.
To cite this article:
Hamid, M., Nawaz, B., Afshan, N., 2016. Significance of Red Cell Count for the Detection of Thalassemia Minor. PSM Biol. Res., 01(1): 22-25.
Thalassemia minor is said to be a monogenetic blood condition. Thalassemia minor patients are usually asymptomatic and lead a good life (Rachmilewitz and Giardina, 2011). A child develops Thalassemia minor when he/she inherits the defected gene from one of the parents, or a more severe form of Thalassemia (Thalassemia major) if the gene from both the parents has been inherited. The term “Thalassemia” actually covers a large group of inherited blood diseases which can be found commonly among people of Mediterranean and Asian origin. Individuals carrying Thalassemia have defects in the genes interfering with the haemoglobin production and ultimately that individual developsanemia. The most common among the subgroups of Thalassemia minor is Beta-Thalassemia minor. Beta-Thalassemia minor patients have only one copy of the defective gene. Some people with beta-Thalassemia minor experience mild anemia (Galanello and Origa, 2010) and may need to maintain their diets, but in normal case, most of the individuals lead a perfectly healthy life and there is no need for special treatment. In fact, many patients do not know that they are carrying the defective genes, unless they have been tested for it. There is mild anemia in the patients. Even with this mild anemia, patients often complain for weakness and fatigue of varying degrees (Clarke and Higgins, 2000).
Thalassemia minor is caused by defects in the genes that make haemoglobin. The type of defective gene is responsible for the nature of Thalassemia minor inherited by an individual. Beta-Thalassemia minor is caused by the reduction or the absence of beta globin synthesis (Thomas, 2001). Thalassemia patients usually lead a healthy life. Some cases of Thalassemia minor have occasionally been reported with splenomegaly, mild bone changes, leg ulcers, or cholelithiasis. Sometimes in pregnant women, significant anemia may develop which requires 1-5 mg/day of folic acid and supportive transfusion therapy (Rachmilewitz and Giardina, 2011). Some patients have complaints for fatigue. Diagnosis of Thalassemia minor can be done by many means such as by polymerase chain reaction (PCR) that is at molecular level, by performing osmotic fragility test (used in this study) and haematological based diagnosis. Treatment for Beta Thalassemia minor includes the periodic blood transfusions throughout the life of patients, combined with iron chelation. Blood transfusions should be given only when required (Nikam et al., 2012). Muhammad et al. (2013) found co-infection of diabetes mellitus with HCV and HBV. The risk factors linked with hepatocellular carcinoma include age, sex, diet, alcohol, and infection with hepatitis B virus (HBV) and/or hepatitis C virus (HCV) (Ali et al., 2015) that may result in thalassemia patients due to repeated blood transfusions.
Haemoglobin is a protein which has a molecular weight of about 68,000 Da (Determann, 1968) and pI at 6.8-7.0 (Gubbuk et al., 2012). It contains four approximately equal polypeptide chains (Gubbuk et al., 2012) which are identical in pairs. Several types of haemoglobin are produced in normal human developmental stages. These are haemoglobin A (Adult haemoglobin) and a subfraction A1, haemoglobin A2, fetal haemoglobin and embryonic haemoglobin (Muirhead and Perutz, 1963). The amount of HbA2 in a normal individual increases 2.5-3.5% of the total haemoglobin during the first and a half year of a child’s life (Mosca et al., 2009). HbA2 is used as a basis for the diagnosis of Thalassemia minor soon after it was discovered in 1950s (Kunkel et al., 1957).
Complete blood count (CBC) test results of Thalassemia minor individuals show low Mean corpuscular volume (MCV), Mean corpuscular heamoglobin (MCH) (Rathod et al., 2007) , the Red cell count is elevated, that is >5.0×106 μl and Red cell distribution width (RDW) is less 17% (Burdick et al., 2009) with the exception that Mean corpuscular haemoglobin concentration (MCHC) is normal (Hussain et al., 2005). Blood smear shows basophilic stippling of erythrocytes (Peter and Rowley, 1976), microcytosis with or without mild anemia (O’Donnell and Ahuja, 2005). Usually the parasite of malaria (Falciparum malaria) grows inside the RBCs of a normal human and causes Malaria. But in Thalassemia minor, the patients have a protection against Malaria because the RBCs in the Thalassemia minor patients are fragile. The cells break down when malarial parasite gets inside and the parasite stops growing (Jacoby and Youngson, 2005).
It has been estimated that the global prevalence of Thalassemia minor is at around 1.5% and the countries in which Thalassemia minor is most common, which fall in the “Thalassemia red belt”, include North and South Africa, Southern Europe, the Middle East, Southeast Asia, and the Far East (Khosa et al., 2015). It has been estimated that the incident rate of Beta Thalassemia minor in the Pakistani population has met up to approximately 6% (Usman et al., 2011).
Ali, H.M., Bhatti, S., Iqbal, M.N., Ali, S., Ahmad, A., Irfan, M., Muhammad, A., 2015. Mutational analysis of MDM2 gene in hepatocellular carcinoma. Sci. Lett., 3(1):33-36.
Clarke, G.M., Higgins, T.N., 2000. “Laboratory investigation of hemoglobinopathies and thalassemias: review and update.” Clin. Chem., 46(8): 1284-1290.
Burdick, C.O., Ntaios, G., Rathod.D., 2009. Separating thalassemia trait and iron deficiency by simple inspection. Am. J. Clin. Pathol., 131(3): 444-445.
El-Beshlwy, A., Kaddah, N., Moustafa, A., Moukhtar, G., Youssry, I., 2007. Screening for β-thalasaemia carriers in Egypt: significance of the osmotic fragility test. East Mediterr. Health J., 13(4): 780-786.
Determann, H., 1968. Gel Chromatography: Gel Filtration• Gel Permeation• Molecular Sieves A Laboratory Handbook, Springer. pp.195.
Galanello, R., Origa, R., 2010. Review: Beta-thalassemia. Orphanet. J. Rare. Dis., 5(11): 1-15. doi:10.1186/1750-1172-5-11
Gomber, S., Madan, N., 1997. Validity of nestroft in screening and diagnosis of β-thalassemia trait. J. Trop. Pediatr., 43(6): 363-366.
Gubbuk, I.H., Ozmen, M., Maltas, E., 2012. Immobilization and Characterization of Hemoglobin on Modified Sporopollenin Surfaces” Int. J. Biol. Mac., 50 (5): 1346-1352.
Hussain, Z., Malik, N., Chughtai, A.S., 2005. Diagnostic significance of red cell indices in Beta-thalassemia trait. Biomedica, 2: 129-131.
Jacoby, D.B., Youngson, R., 2005. Encyclopedia of family health, Marshall Cavendish.
Khosa, S.M., Usman, M., Moinuddin, M., Mehmood, H.O., Qamar, K., 2015. Comparative analysis of cellulose acetate hemoglobin electrophoresis and high performance liquid chromatography for quantitative determination of hemoglobin A2. Blood Res., 50(1): 46-50.
Kunkel, H.G.R., Ceppellini, R., Muller-Eberhard, U., 1957. “Observations on the minor basic hemoglobin component in the blood of normal individuals and patients with thalassemia.” J. Clin. Invest., 36(11): 1615-25. DOI: 10.1172/JCI10356.
Mosca, A., Paleari, R., Ivaldi, G., 2009. The role of haemoglobin A2 testing in the diagnosis of thalassaemias and related haemoglobinopathies. J. Clin Pathol., 62(1): 13-17. doi: 10.1136/jcp.2008.056945.
Muhammad, A., Farooq, M.U., Iqbal, M.N., Ali, S.,Ahmad, A. Irfan, M., 2013. Prevalence of diabetes mellitus type II in patients with hepatitis C and associated with other risk factors. Punjab Univ. J. Zool., 28(2): 69-75.
Muirhead, H., Perutz, M., 1963. Structure of reduced human hemoglobin. Cold Spring Harbor Symposia on Quantitative Biology, Cold Spring Harbor Laboratory Press.
Nikam, S.V., Dama, S.B., Dama, L.B., Saraf, S.A., 2012. Geographical distribution and prevalence percentage of Thalassemia from Solapur, Maharashtra, India. DAV Int. J. Sci., 1(2): 91-95.
O’Donnell, J.T., Ahuja, G.D., 2005. Drug injury: Liability, analysis, and prevention, Lawyers & Judges Publishing Company.
Peter, T., Rowley, M.D., 1976. The diagnosis of beta‐thalassemia trait: A review. Am. J. Hematol., 1(1): 129-137.
Rachmilewitz, E.A. Giardina, P.J., 2011. How I treat thalassemia. Blood, 118(13): 3479-3488.
Rathod, D.A., Kaur, A., Patel et al., 2007. Usefulness of cell counter–based parameters and formulas in detection of β-thalassemia trait in areas of high prevalence. Am. J. Clin. Pathol., 128(4): 585-589.
Thomas, J.P., 2001. “beta-Thalassemia Minor and Newly Diagnosed Polycythemia Rubra Vera in a 71-Year-Old Woman.” Hosp. Physician., 37(4): 78-83.
Usman, M., Moinuddin, M., Ahmed, S.A., 2011. Role of iron deficiency anemia in the propagation of beta thalssemia gene. Korean J. Hematol., 46(1): 41-44. doi: 10.5045/kjh.2011.46.1.41.
Yamsri, S., Sanchaisuriya, K., Fucharoen, G., Sae-Ung, N., Fucharoen, S., 2011. Genotype and phenotype characterizations in a large cohort of β-thalassemia heterozygote with different forms of α-thalassemia in northeast Thailand. Blood Cells Mol. Dis., 47(2): 120-4.