Vincenzo De Sanctis1, Christos Kattamis2, Duran Canatan3, Ashraf T. Soliman4 , Heba Elsedfy5, Mehran Karimi6, Shahina Daar7, Yasser Wali8, Mohamed Yassin9, Nada Soliman10, Praveen Sobti11, Soad Al Jaouni12, Mohamed El Kholy5, Bernadette Fiscina13 and Michael Angastiniotis14
1 Pediatric and Adolescent Outpatient Clinic, Quisisana Hospital, Ferrara, Italy.
2 First Department of Paediatrics, University of Athens, Athens, Greece.
3 Director of Thalassemia Diagnosis Center of Mediterranean Blood Diseases Foundation, Antalya, Turkey.
4 Department of Pediatrics, Division of Endocrinology, Alexandria University Children's Hospital, Alexandria, Egypt.
5 Department of Pediatrics, Ain Shams University, Cairo, Egypt.
6 Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
7 Department of Haematology, College of Medicine and Health Sciences, Sultan Qaboos University, Sultanate of Oman
8 Pediatric Hematology Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman and Department of Pediatrics, Alexandria University Children's Hospital, Egypt.
9 National Center for Cancer Care and Research, Medical Oncology Hematology Section HMC, Doha, Qatar.
10 Primary Health Care, Ministry of Health, Alexandria, Egypt.
11 Professor, Pediatric Hemato-Oncology, Christian Medical College and Hospital, Ludhiana, Punjab, India.
12 Head, Division of Pediatric Hematology Oncology, Deputy Chair of Hematology and Head, Section of Hematology Research Lab, King Fahd Medical Research Center, Department of Hematology Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
13 Department of Pediatrics, NYU School of Medicine, New York, USA.
14 Medical Advisor, Thalassemia International Federation (TIF), Nicosia, Cyprus.
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Haemoglobinopathies constitute the commonest recessive monogenic
disorders worldwide, and the treatment of affected individuals presents
a substantial global disease burden. β -thalassaemia is characterised
by the reduced synthesis (β+) or absence (βo) of the β-globin chains in
the HbA molecule, resulting in accumulation of excess unbound
α-globin chains that precipitate in erythroid precursors in the bone
marrow and in the mature erythrocytes, leading to ineffective
erythropoiesis and peripheral haemolysis. Approximately 1.5% of the
global population are heterozygotes (carriers) of the β-thalassemias;
there is a high incidence in populations from the Mediterranean basin,
throughout the Middle East, the Indian subcontinent, Southeast Asia,
and Melanesia to the Pacific Islands.
Epidemiology and Global Burden of the Thalassemia Disorders
Origin, Spread and Evolutionary History of Beta-Globin Gene Mutations
Most Common β-Thalassemia Variants in the Mediterranean Belt and Arabic Countries
|Table 1. The distribution of β-thalassemia variants in other countries.|
The Phylogeography and Phytogeographic Brief History of People in Ancient Times
Factors Influencing the Global Distribution of Thalassemias
|Figure 1. Heterogeneity of β–thalassemia mutations related to recent migration in France and the United Kingdom compared to Italy. The prevalence of the most common mutation in the country is shown in red (Based on Galanello R, Eleftheriou A, Trager-Synodinos J, Old J, Petrou M, Angastiniotis M. Prevention of thalassaemias and other haemoglobin disorders. Thalassemia International Federation [TIF] Publications. Vol 1, 2003; by courtesy of TIF)|
Archeological Remains Suggestive of Hereditary Anemias