Acta Scientific Microbiology (ISSN: 2581-3226)

Research Article Volume 6 Issue 9

Clinicohematological Characteristics, Types and Frequency of Hemoglobinopathies; A Nonhospital Based Laboratory Experienced from Pakistan

Aisha Arshad1*, Mariam Farhan Essa Abedin3, Nadia Farhan Essa1,2 and Farhan Essa Abdullah1,2

1Department of Hematology, Dr. Essa Laboratory and Diagnostic Centre, Karachi, Pakistan

2Department of Microbiology, Dr. Essa Laboratory and Diagnostic Centre, Karachi, Pakistan

3Dow Medical College, Karachi, Pakistan

*Corresponding Author: Aisha Arshad, Department of Hematology, Dr. Essa Laboratory and Diagnostic Centre, Karachi, Pakistan.

Received: July 19, 2023; Published: August 23, 2023


Introduction: Thalassemia is a genetic disease which has autosomal recessive pattern of inheritance with carrier rate of thalassemia is 5-7% in Pakistan. The study was planned to observe the types, frequency and detailed clinicohematological of hemoglobinopathies in the Karachi, the largest cosmopolitan city of the country.

Materials and Methods: An observational and cross-sectional study conducted during the period of September 2020 to February 2022 at Dr. Essa Laboratory and Diagnostic center. A total of 1365 participants were included. CBC was performed using XP-100 and Hb Electrophoresis was done using Bio-Rad D10 analyzer. All parameters were calculated in mean, standard deviation and percentages using SPSS version 23.

Results: Among 1365 participants, the Iron deficiency anemia (IDA) was more common in patients 971(71%) followed by thalassemia minor 276 (20%), thalassemia major 90 (7%), HbD disease 20 (1.46%) and HbE disease 08 (0.5%). The most common presenting complain was weakness observed in 933 (68.3%) patients followed by vertigo in 230 (16.8%) and body pain in 102 (7.47%) patients. A significant low level of Hb 5.9 ± 2.95 and MCV 17.3 ± 4.9 were observed in Thalassemia major patients with p = < 0.001.

Conclusion: Although thalassemia is a genetic disease, but higher frequency was found in our population with IDA and thalassemia minor. Screening before marriages and adequate measures especially prenatal diagnosis should be performed in order to reduce the possibility of Hemoglobinopathies. However, this study has been done on small number of sample size in one large cosmopolitan city of Karachi and requires evaluating further with large number of sample size within different areas of Pakistan.

 Keywords: Clinicohematological; Frequency; Hemoglobinopathies; Pakistan


  1. Cousens NE., et al. “Carrier screening for beta-thalassaemia: a review of international practice”. European Journal of Human Genetics 10 (2010): 1077-1083.
  2. “About thalassemia”. Thalassemia Int Pub 2 (2003): 11-2.
  3. Ahmed S., et al. “Screening extended families for genetic hemoglobin disorders in Pakistan”. New England Journal of Medicine15 (2002): 1162-1168.
  4. Ansari SH., et al. “Molecular epidemiology of β-thalassemia in Pakistan: Far reaching implications”. Indian Journal of Human Genetics2 (2012): 193.
  5. Asif N and Hassan K. “Prevention of beta thalassemia in Pakistan”. Journal of Islamic International Medical College 2 (2014): 46-47.
  6. Khattak SAK., et al. “Prevalence of various mutations in beta thalassaemia and its association with haematological parameters”. JPMA-Journal of the Pakistan Medical Association1 (2012): 40.
  7. Old J., et al. “Prevention of thalassaemias and other haemoglobin disorders: volume 2: laboratory protocols (2014).
  8. Oyaert M., et al. “Evaluation of the S ebia M inicap F lex P iercing capillary electrophoresis for hemoglobinopathy testing”. International Journal of Laboratory Hematology3 (2015): 420-425.
  9. Mondal SK and Mandal S. “Prevalence of thalassemia and hemoglobinopathy in eastern India: a 10-year high-performance liquid chromatography study of 119,336 cases”. Asian Journal of Transfusion Science 1 (2016): 105.
  10. Manna AK., et al. “Relative incidence of different thalassaemias and haemoglobinopathies in South Bengal”. Journal of the Indian Medical Association 6 (2009): 347-349.
  11. Colah R., et al. “Global burden, distribution and prevention of β-thalassemias and hemoglobin E disorders”. Expert Review of Hematology1 (2010): 103-117.
  12. Madan N., et al. “Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India”. Indian Journal of Human Genetics 1 (2010): 16.
  13. Dolai TK., et al. “Prevalence of hemoglobinopathies in rural Bengal, India”. Hemoglobin1 (2012): 57-63.
  14. Sadiq MA., et al. “Frequency of beta thalassemia trait among the healthy individuals-a single centre study”. Pakistan Armed Forces Medical Journal6 (2018): 1716-1719.
  15. Mondal B., et al. “Prevalence of hemoglobinopathy, ABO and rhesus blood groups in rural areas of West Bengal, India”. Journal of Research in Medical Sciences: The Official Journal of Isfahan University of Medical Sciences8 (2012): 772.
  16. Balgir R. “The burden of haemoglobinopathies in India and the challenges ahead”. Current Science (2000): 1536-1547.
  17. Shabbir S., et al. “Type and frequency of hemoglobinopathies, diagnosed in the area of Karachi, in Pakistan”. Cogent Medicine 1 (2016): 1188875.
  18. Modell B and Bulyzhenkov V. “Distribution and control of some genetic disorders”. World Health Statistics Quarterly Rapport Trimestriel de Statistiques Sanitaires Mondiales3-4 (1988): 209-218.


Citation: Aisha Arshad., et al. “Clinicohematological Characteristics, Types and Frequency of Hemoglobinopathies; A Nonhospital Based Laboratory Experienced from Pakistan". Acta Scientific Microbiology 6.9 (2023): 89-92.


Copyright: © 2023 Aisha Arshad., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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