**Part 2**

**Unifactorial or Unigenetic Disorder** 

98 Advances in the Study of Genetic Disorders

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**6** 

*Thailand* 

**Thalassemia Syndrome** 

*Chronic Diseases Research Unit, Department of Medical Technology,* 

Thalassemia is an inherited disorder of autosomal recessive gene disorder caused by impaired synthesis of one or more globin chains. The impairment alters production of hemoglobin (Hb) **(**Ridolfi et al., 2002). Thalassemia causes varying degrees of anemia, which can range from significant to life threatening. People of Mediterranean, Middle Eastern, African, and Southeast Asian descent are at higher risk of carrying the genes for thalassemia **(**Weatherall, 1997). These hereditary anemias are caused by mutations that decrease hemoglobin synthesis and red cell survival. These hereditary anemia caused by decreased or absent production of one type of globin chain either α or β globin chain. These hematologic disorders range from asymptomatic to severe anemia that can cause significant morbidity and mortality. It was first recognized clinically in 1925 by Dr. Thomas Cooley, who described a syndrome of anemia with microcytic erythrocytes. Then it was called Cooley's anemia. Later Wipple and Bradford renamed this disease as "Thalassemia". Because it was found in the region of the Mediterranean Sea (thalasa is an old Greek word for sea) (Cooley, 1946). Thalassemias can cause significant problems because these are inherited disorders, newborn screening and prenatal diagnosis are important in management of patients. This topic will review the clinical features of thalassemia while focusing on pathophysiology, clinical features, complication, management, screening and diagnosis. Formerly the distribution of thalassemia had been mainly limited to the areas from the Mediterranean basin through the Middle East and Indian subcontinent up to Southeast Asia so called "thalassemia belt" (Chernoff, 1959). However, recent migrations of

Hemoglobin (Hb) is the molecule that carries and transports oxygen all through the body. Normal human hemoglobin is a tetramer formed by two pairs of globin chains attached to heme. The hemoglobin type is determined by the combination of tetra-globin chains (α, β, δ, and γ chains). Each globin chain is structurally different and thus has different oxygen affinity, electrical charge, and electrophoretic mobility. Normal adult hemoglobins are expressed as A2, A and F (fetal). Ninety-five to ninety-eight percent of adult hemoglobin is A the major hemoglobin, which consists of two α- and two β-chains (α2, β2). Hemoglobin A2 (α2, δ2), the remainder of hemoglobin in adults is a minor component (less than 3.3%), and 1% or less of F (α2, γ2) (Nathan & Oski, 1993.), the gamma hemoglobin (Hb-F) is the

people have spread thalassemia genes throughout the world.

**1. Introduction** 

**2. Pathophysiology** 

Tangvarasittichai Surapon

*Naresuan University, Phitsanulok* 
