A recent study found a moderately high prevalence of beta-thalassemia minor, which had previously been undiagnosed, in pregnant women tested from rural villages in a region of India. The study’s findings were presented in a poster at the EHA 2022 Hybrid Congress by Sasmith R Menakuru, MD, of Indiana University Health Ball Memorial Hospital in Muncie, Indiana, and Sruti Kalla of Maharajah’s Institute of Medical Sciences in Vizianagaram, Andhra Pradesh, India.
The study aimed to evaluate the prevalence of beta-thalassemia minor among pregnant women in rural India, in addition to helping to inform couples who may be at risk of having a child be born with beta-thalassemia major. The researchers also had an objective of exploring rates of iron deficiency anemia (IDA) misdiagnoses.
For this study, the researchers included pregnant women with a prior IDA diagnosis who were in their first trimester. Women were selected from the region around Andhra Pradesh, India. They received prenatal screening for beta-thalassemia minor, and if they tested positive for this condition, then their husbands were also screened for it.
The researchers used the Mentzer index to distinguish between suspected IDA versus beta-thalassemia. Samples from those with a Mentzer index suggesting the presence of beta-thalassemia underwent further testing with the Naked Eye Single Tube Red Cell Osmotic Fragility Test, with confirmation using high-performance liquid chromatography. At-risk couples were defined as a wife and husband who both tested positive for beta-thalassemia minor.
A total of 800 pregnant women with prior IDA diagnoses were screened in this analysis. From this population, 47 women (5.87%) showed positivity for beta-thalassemia minor. Among participants who were identified to have beta-thalassemia minor, and whose husbands were also tested for this, a total of 7 at-risk couples were identified.
A prenatal diagnosis of beta-thalassemia major was offered to these 7 at-risk couples. A total of 5 of these couples proceeded to terminate their pregnancies. The other 2 couples were lost to follow-up.
The researchers concluded that undiagnosed beta-thalassemia minor showed a moderately high prevalence in this study population in rural India, and they considered the rate of IDA misdiagnosis in this population to be alarming. They also noted that participation in a voluntary screening program in India is limited.
In their poster, the researchers indicated a goal would be detecting carrier couples through a premarital screening program. However, they explained that this has been difficult to implement. For this reason, they suggested implementing a prenatal carrier screening method, in addition to increasing efforts to raise awareness of the need to screen for beta-thalassemia minor.
Disclosures are not available for this presentation.
Menakuru S, Kalla S. Screening for beta-thalassemia minor in pregnant females previously diagnosed with iron deficiency anemia: what are the rates of misdiagnosis and the need for an increased update of carrier screening. Presented at EHA 2022; June 9-12, 2022. Abstract P1516.