Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr.
Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for …

While the prevalence of genetic disorders has been well documented in the Muslim-majority,
low-socioeconomic country of Pakistan, the provision of medical genetic services remains …

Pakistan has a high rate of genetic disorders and neonatal mortality concurrent with noted
lack of genetic counselors and geneticists. To meet the needs of the patient population, the …

Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare
genetic condition that requires lifelong management from birth. Individuals with CAH and …

Marriage is a topic of significant interest among anthropologists, sociologists, and
geneticists. Consanguineous marriage is the union between descendants from the same …

Thalassemia poses a major public health concern in Bangladesh with a high prevalence of
carriers. However, there is a substantial knowledge gap regarding its epidemiology, clinical …

β-thalassemia, a life-threatening inheritable hemoglobin disorder caused by mutations in the
HBB gene, poses a significant public health challenge in the world. Although no …

Hemoglobinopathies, including α-and β-thalassemias and sickle cell disease, are among
the most widely disseminated hereditary blood disorders worldwide. Bangladesh is …

In the advent of technological revolution, genetic interaction has become a crucial aspect in
the understanding of any diseases. Information on individual genetic variation is now used …

Purpose: Insufficient epidemiological data on the prevalence of chromosomal abnormalities
may hamper investments in research and interventions for better prevention and treatment of …