📂 Diseases
Alpha-thalassemia mental retardation syndrome — Definition
Alfa-talasemi mental retardasyon sendromu / Alpha-thalassemia mental retardation syndrome
Alpha-talasemi mental retardation syndrome is a rare genetic disease, characterized by hemolytic anemia and mental insufficientness, resulting from deletions or mutations in alpha-globin genes. The disease leads to reduction in oxygen transportation capacity due to the deficiency in the production of alpha-globin chain and the hypoxia of tissue. Clinical findings include mild to moderate severity anemia, developmental delay, learning difficulties and sometimes seizures. Sendrom usually shows autozomal resessive inheritance and is subject to diagnosis, hematological tests and genetic analysis.
Frequently Asked Questions
❓ What is Alfa-talasemi mental retardasyon sendromu?
Alfa-talasemi mental retardasyon sendromu; alpha-talasemi mental retardation syndrome is a rare genetic disease, characterized by hemolytic anemia and mental insufficientness, resulting from deletions or mutations in alpha-globin genes. The disease leads to reduction in oxygen transportation capacity due to the deficiency in the production of alpha-globin chain and the hypoxia of tissue. Clinical findings include mild to moderate severity anemia, developmental delay, learning difficulties and sometimes seizures. Sendrom usually shows autozomal resessive inheritance and is subject to diagnosis, hematological tests and genetic analysis.
❓ What is Alpha-thalassemia mental retardation syndrome in Turkish?
The Turkish equivalent of "Alpha-thalassemia mental retardation syndrome" is Alfa-talasemi mental retardasyon sendromu.
❓ Which medical field is Alfa-talasemi mental retardasyon sendromu related to?
This term belongs to the Diseases category.