Azerbaijan`s most widespread genetic disorders named

  19 June 2013    Read: 444
Azerbaijan`s most widespread genetic disorders named
Genetic diseases occur in different regions of Azerbaijan with varying frequency.
A heterozygous carrier of the beta-thalassemia gene is most common among apparently healthy residents of Shaki, Oghuz, Ismayilli, Goychay, Shamakhi, Agdash, Ujar, Saatly, Sabirabad an Salyan regions and scientists explain the reason differently.

"Unfortunately, due to the spread of thalassemia Azerbaijan ranks fourth in the world while ranking first is Sardinia (Italy) with 23-30 percent of the carriers of the disease; [the figure is] 17 percent in the northern and southern regions of Cyprus and 10-12 percent in some regions of Greece and Turkey," said PhD Elkhan Rasulov, geneticist at the Republican Treatment and Diagnostics Center.

If an apparently healthy person who has two heterozygotes starts a family, the risk of having a child with thalassemia for each pregnancy will be 25 percent.

"Anemia occurs with a frequency of 9 to 36.2 percent in the Lankaran-Astara region. For Gobu (Absheron region) Ehlers-Danlos syndrome is more common. Hemophilia is more common for Buzovna residents. For the residents of Guba and Gusar anemia is the most common," Rasulov said.

Ehlers-Danlos syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen, which is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs.

Genetic diseases are caused by mutations which occur in the DNA molecule. As for the incidence of such diseases, it depends on human migration, kinship marriages and other factors.

Rasulov said it is great when those getting married, particularly relatives, undergo genetic testing.

"According to the survey I conducted among students, the parents of about 18-19 percent of respondents are relatives. Most of those who apply to us are also relatives. They pass this checkup because they are worried about their children`s future," Rasulov said.

He said the most common diseases in Azerbaijan are thalassemia, hemophilia and the glucose-6-phosphate dehydrogenase deficiency (G6PD A), which causes the appearance of hemolytic crises.

"As a consequence sickle-cell anaemia (SCA) is common for the population of Gabala, Shaki, Ismayilli, Shamakhi, Agdash as well as in Narajan (Khachmaz). In the latter case the reason was that in the beginning of the last century several families from Gabala region who were carriers of the sickle-cell gene moved to Narajan village. The clinical picture of the sickle-cell disorder is very similar to that of thalassemia. It is hard to distinguish them without a special genetic analysis," the expert said.

Researches have shown that 8 percent of Azerbaijanis are carriers of the thalassemia gene. If we remember that recessive diseases occur in families where both parents are carriers of the same deleterious gene, this risk becomes clear. That is why it is so important to undergo genetic testing before marriage.

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