Exploring the role of consanguinity in thalassemia prevalence in Pakistan: an in-depth analysis of genetic and cultural factors affecting public health

Abstract

Thalassemia syndromes, inherited disorders marked by reduced hemoglobin production, pose a significant global health challenge, particularly in regions with high rates of consanguineous marriages. α- and β-Thalassemia vary in severity, ranging from asymptomatic carriers to severe anemia requiring lifelong transfusions. Consanguinity, common in areas like Southeast Asia, the Mediterranean, and Africa, significantly contributes to the high prevalence of β-thalassemia in countries such as Pakistan and India, where rates can reach up to 73%. This cultural practice, deeply rooted in family ties and tradition, complicates public health efforts focused on prevention and management. Current treatment strategies rely heavily on supportive care, including regular blood transfusions and iron chelation therapy, with curative options limited by donor availability and economic constraints. Preventive efforts highlight the importance of mandatory premarital and prenatal screening, genetic counseling, and public education to reduce hereditary transmission of thalassemia. Despite progress in genomic medicine, there remain challenges in delivering comprehensive genetic services in affected regions. Addressing the complex relationship between genetic predisposition, cultural customs, and healthcare access is crucial to mitigating the prevalence and impact of thalassemia globally.

Keywords: Pakistan; consanguinity; genetic disorder; public health; thalassemia.

Figure 1.

Types of thalassemia.

Figure 2.

Overview of systemic complications in thalassemia, including endocrine, hematologic, and organ-specific manifestations (e.g., splenomegaly, hepatomegaly, hypothyroidism, diabetes, infertility, and persistent anemia).

Figure 3.

Regional prevalence of thalassemia in Pakistan, highlighting variations among Sindh, Baluchistan, and Punjab provinces.

Figure 4.

Trends in the prevalence of first-cousin marriages among rural and urban women (1990–2018).

Figure 5.

Shifting patterns in the incidence of first-cousin marriages across Pakistani provinces over the last three decades.

Figure 6.

Regional variations in consanguineous marriage incidence rates across Pakistan, India, Europe, and North Africa.