Antenatal Screening for Hemoglobinopathies with HPLC
Journal Title: RECENT ADVANCES IN PATHOLOGY AND LABORATORY MEDICINE - Year 2018, Vol 4, Issue 3
Abstract
Introduction: Hemoglobinopathies are the most commonly encountered monogenic disorders of blood in Southeast Asia and Indian subcontinent. Screening of individuals at increased risk of being carriers for thalassemia and hemoglobinopathies, can identify couples with a 25% risk of having a pregnancy with a significant genetic disorder, for which prenatal diagnosis is possible. This study is done to know the prevalence of hemoglobinopathies and variant of haemoglobin using cation exchange high performance liquid chromatography (CEHPLC). Materials and Methods: 2 ml of venous blood was collected in EDTA vials from the pregnant mothers after informed consent. The blood was subjected to complete hemogram, peripheral blood smear and HPLC using Variant Hemoglobin Testing System (BioRad Laboratories). Beta Thalassemia short programme was used. Descriptive analysis was done and data is presented in numbers and percentages. Results: 467 blood samples from various ethnic groups were evaluated. 70 (14.99%) samples showed features of hemoglobinopathies by HPLC. There were 46 (9.85%) cases of HbE heterozygous,12 (2.57%) cases of HbE homozygous, 9(1.93%) cases of Beta Thalassemia Trait, 2 (0.43%) cases of double heterozygous and 1 (0.21%) case of Hb-D Iran. Conclusion: This study showed a high prevalence of hemoglobinopathies in antenatal mothers necessitating an appropriate screening strategy for antenatal mothers. We also concluded that HPLC is a sensitive technique for studying hemoglobinopathies during pregnancy and may be utilized for screening.
Authors and Affiliations
Dr. Yookarin Khonglah
Study of Effect of Alcohol on the Microscopic Analysis of Semen
Background: Consumption of alcohol is a major modifiable, rather avoidable lifestyle choice and has shown to affect male fertility. Alcohol has shown to cause various deleterious effects on the male reproductive system....
Correlation between Modified Bloom Richardson Grade and Lymph Nodal Status in Infiltrating Ductal Type of Breast Carcinoma
Introduction: Breast cancer is one of the most common cancers in women. Among the various types, invasive ductal carcinomas (IDC), not otherwise specified (NOS) is the most common type. This study was conducted to descri...
Recurrent Malignant Phyllodes Tumor of the Breast: A Rare Occurrence in a Young Nulliparous Woman
Phyllodes tumor of the breast is an uncommon fibroepithelial neoplasm and accounts for less than 1% of the primary breast neoplasms. The median age of its occurrence is 40–50 years. It has been sub-classified histologica...
Osteoma Cutis: Report of a Case and Literature Review
Osteoma Cutis is a rarely seen benign disease. Osteoma cutis (OC) is an abnormal development of bone within tegumentary tissue. OC is a benign and asymptomatic lesion, characterized by presence of ectopic osseous lamella...
Clinicopathological Spectrum of Pancytopenia in Tertiary Care Centre in Northern India
Introduction: The term pancytopenia refers to a reduction in all three formed elements of blood-erythrocytes, leucocytes and platelets. It is not a disease entity, but rather a triad of findings that may result from a nu...