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Updated: Aug 15, 2026
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Prenatal diagnosis of sickle cell disease by the technique of PCR
Praneeta J Singh1, A C Shrivastava1, A V Shrikhande1
1Department of Pathology, Indira Gandhi Government Medical College, Nagpur, India.
Insights
This pilot study established prenatal diagnosis for sickle cell disease (SCD) in Central India using ARMS-PCR. The technique showed 75% sensitivity, aiding informed decisions for affected couples.
Area of Science:
- Medical Genetics
- Molecular Diagnostics
- Public Health
Background:
- Sickle cell disease (SCD) causes significant health issues in Central India.
- Limited access to prenatal diagnostic facilities exacerbates the problem for affected populations.
- A pilot study was initiated to address this gap in Central India.
Purpose of the Study:
- To establish a prenatal diagnostic facility for couples carrying the sickle cell gene in Central India.
- To enable informed reproductive decisions for families at risk of SCD.
- To determine the sensitivity of the Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR) technique in this region.
Main Methods:
- Fetal DNA was obtained via chorionic villous biopsy.
- ARMS-PCR was employed to detect the sickle cell mutation (GAG → GTG) in the beta-globin gene.
- High-performance liquid chromatography (HPLC) was used for follow-up analysis of infant blood samples.
Main Results:
- Prenatal diagnosis was offered to 37 cases; one sample was inadequate.
- Results indicated 70.27% AS, 8.11% AA, and 8.11% SS genotypes; 10.81% were AA/AS.
- ARMS-PCR sensitivity was 75%, with 25% mismatch in follow-up HPLC correlations.
Conclusions:
- ARMS-PCR is a viable initial technique for rapid prenatal diagnosis of sickle cell mutation.
- The study highlights the need for improved methods to prevent maternal DNA contamination and increase sensitivity.
- Establishing this facility empowers couples with crucial information for reproductive planning.
Abstract:
Sickle cell disease (SCD) is prevalent in Central India and causes major morbidity and mortality. There is a lack of prenatal diagnostic facility near population affected with SCD. This is the pilot study in our region with the aim to establish prenatal diagnostic facility for the couples carrying sickle cell gene in Central India, in order to help them take an informed decision regarding fetus affected with SCD and also to calculate sensitivity of polymerase chain reaction (PCR) technique in our set up with follow up high performance liquid chromatography (HPLC) of baby's blood sample. Fetal sampling was done by chorionic villous biopsy. Extracted DNA was subjected to amplification refractory mutation system (ARMS-PCR) to detect sickle cell mutation (GAG → GTG) in the sixth codon of β globin gene. Follow-up HPLC was done to detect baby's Hb pattern. Prenatal diagnosis of sickle cell anemia was offered in total 37 cases out of which one (2.7 %) fetal sample was inadequate. Total 26 (70.27 %) fetuses had AS Hb genotype, 3 (8.11 %) had AA Hb genotype and 3 (8.11 %) had SS Hb genotype while remaining 4 (10.81 %) were given AA/AS Hb genotype. All couples with SS fetuses opted for MTP. Follow up HPLC was performed in 24 cases, out of which 18 (75 %) were correlated and 6 (25 %) were mismatched. In present study sensitivity of ARMS-PCR was 75 %. ARMS-PCR is a simple technique to be established initially for providing rapid prenatal diagnosis to the couples with known sickle cell mutation. The sensitivity of ARMS-PCR can be increased by using suitable techniques to detect maternal cell DNA contamination.
