Background and Objectives Microcytic hypochromic anemia is the most common feature of alpha-thalassemia and depends on the number of alpha genes deleted. Therefore, in this study, we aim to determine the most common deletion mutations among microcytic anemia cases of West Bengal and correlate them with different biochemical parameters and endophenotypes.

Methods Two hundred and sixty patients with microcytic anemia were recruited. The GAP-PCR technique was adopted to identify the 3.7 kb and 4.2 kb deletion mutation in the HBA gene.

Results Forty patients were found to have either 3.7 kb or 4.2 kb deletion mutations which represents ~15.38% of the microcytic anemia patient population. A statistically significant lowering of MCH values (P = 0.02) and elevated levels of Total Bilirubin (P = 0.0001), direct bilirubin (P = 0.0004), unconjugated bilirubin (P = 0.0001), SGPT (P = 0.005), SGOT (P = 0.005), ALP (P = 0.008), RBC count (P = 0.01) and Hemoglobin level (P = 0.02) were observed among the alpha-thalassemia mutation carriers than non-mutant. The study failed to show any correlation between mutation status disease severity and gender bias.

Conclusion The two common deletion mutations (−3.7 kb or -4.2 kb) in the HBA gene are most commonly found in microcytic anemia cases of West Bengal and can be correlated with several biochemical parameters.

The authors have declared no competing interest.

Supported by grants from the Department of Biotechnology, Ministry of Science & Technology, Govt. of India (BT/NIDAN/01/05/2018) and Institutional Research Promotion, Nil Ratan Sircar Medical College, Govt. of West Bengal.

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

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The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

All procedures performed in studies involving human participants were in accordance with the ethical standards of the Nil Ratan Sircar Medical College & Hospital, Kolkata, India. The Ethics Committees (Nil Ratan Sircar Medical College & Hospital, Kolkata, India) of the abovementioned Institutes approved the study protocol. Informed consent was taken as per guidelines of the Indian Council of Medical Research, National Ethical Guidelines for Biomedical and Health Research involving human participants, India.

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I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).

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The data that support the findings of this study are available from the corresponding author upon request.

The data that support the findings of this study are available from the corresponding author upon request.

SB, SG, RD, and AB, were responsible for the concept, study design, sample collection, experimental work, and manuscript preparation. SNB was responsible for sample collection, clinical diagnosis, and manuscript preparation. AS, and SDG were responsible for sample collection. All authors read the draft, provided their inputs, and agreed on the final version of the manuscript.

All procedures performed in studies involving human participants were in accordance with the ethical standards of the Nil Ratan Sircar Medical College & Hospital, Kolkata, India. The Ethics Committees (Nil Ratan Sircar Medical College & Hospital, Kolkata, India) of the abovementioned Institutes approved the study protocol. Informed consent was taken as per guidelines of the Indian Council of Medical Research, National Ethical Guidelines for Biomedical and Health Research involving human participants, India.