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Study tracks mutations causing CDA II back to the Roman Empire
Date:10/7/2011

Many of you might know that Congenital Dyserythropoietic Anemia type II (CDA II) is a rare blood disorder, due to a failure in final part of erythropoiesis. What will surprise you is the fact that some mutations responsible for the disease can be tracked 3.000 years back. A study led by the ENERCA member Prof. Achille Iolascon, from CEINGE Advanced Biotechnologies (Naples, Italy) and the University of Naples Federico II, analyzes two mutations (E109K and R14W) of the SEC23B gene and discovers one of them is responsible for the higher frequency of CDA II in Italian population. The first mutation, E109K, may have originated in the Middle East about 2.400 years ago and may have spread in the heyday of the Roman Empire. The other one may have originated in Southern Italy about 3.000 years ago.

ENERCA is an acronym for European Network for Rare and Congenital Anaemias. It started back in 2002, funded by the European Commission and led by Dr. Joan Llus Vives Corrons, an investigator from the Hospital Clnic of Barcelona and the Institut d'Investigacions Biomdiques August Pi i Sunyer (IDIBAPS). Its purpose is offering an improved public health service to professional medical practitioners and patients in every aspect of rare anaemias.

As many other kinds of anemia, CDA II is characterized by ineffective erythropoiesis. It leads patients to a decrease in the number of produced reticulocytes and a low concentration of hemoglobin in the blood. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues, resulting in various symptoms of anemia including: tiredness (fatigue), weakness, pale skin, and other similar complications. It was first described in 1968, and soon became clear that the condition was heterogeneous, and three forms became well known, with type II being the most frequent.

CDA II is an autosomal recessive con
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Contact: Alex Argemi
aargemi@clinic.ub.es
34-932-275-700
IDIBAPS - Institut d'Investigacions Biomdiques August Pi i Sunyer
Source:Eurekalert

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