Chapter 18 - Eliminating Beta Thalassemia Major and Other Congenital Blood Disorders

Abstract

Thalassemia was first described as a hemolytic anemia by Cooley and Lee in 1925 in several Italian-American children with severe anemia, enlarged spleen and liver, discoloration of the skin, and bone changes. The disorder was first named Cooley's anemia and later thalassemia from the term “thalassa anemia”or Mediterranean anemia due to its association with the Mediterranean Sea and throughout the Middle East region. Originally, thalassemia was thought to be a disease mainly among Greek, Arab, Southern Italian and Turkish populations. However, as early as the 1930s there were case reports among Asians as well. Thalassemia in its various forms as the most common genetic disorder of public health significance in the World Health Organization (WHO) Southeast Asia, Indian sub-continent and sub-Saharan Africa as well as countries with immigration of population from affected regions. Sickle Cell Disease is a milder but clinically important hemoglobin disorder primarily among people of African origin. Estimates suggest that between 300,000 and 400,000 babies are born with serious hemoglobin disorders annually, the vast majority in low- or middle-income countries. Preventive efforts, genomics and developments in bone marrow technology along with treatment with blood transfusions and chelating agents are extending the life of those afflicted. Experience with community health promotion measures for prevention of new cases of Beta thalassemia major in Cyprus, a high prevalence country, became a model for preventing genetic disorders. This came well before the genome era with important lessons for genetic disease control in many countries with much more potential for wider application in low and medium income countries.