Genetic diseases: Thalassemias
Definition
In this post on genetic diseases, we'll discuss thalassemia. Thalassemia defines a group of blood disorders that involve abnormally low hemoglobin levels, which causes serious health problems.
Causes
Thalassemia occurs as a result of DNA mutations affecting hemoglobin genes (genetic mutations). Hemoglobin transports oxygen within red blood cells throughout the body. Therefore, mutations in these genes reduce the amount of hemoglobin due to deficiency of the alpha (alpha-thalassemia, more severe) and/or beta (beta-thalassemia, less severe) chains.
Genetics of the disease
The most common mutations affect a single gene: the hemoglobin beta subunit ( HBB ). Therefore, the inheritance pattern for this disease follows the pattern of autosomal recessive disorders. That is, it is necessary to have both mutated copies of the gene to develop the disease. This makes it possible to be a carrier of the disease without ever suffering from it.
Symptoms
The most common symptoms are tiredness, fatigue, and generalized inflammation. Bone pain and fragility are also common. In addition, people with this condition also experience poor appetite, dark urine, and jaundice.
Diagnosis
Thalassemia is detected before a baby's second birthday. Diagnosis is usually made through a blood test. As a result, children with the condition experience a distended abdomen and other common symptoms of anemia, including growth problems. In this regard, blood tests are used to determine if a baby has any type of thalassemia. These tests identify the shape and number of red blood cells, a clear indicator of anemia. Genetic studies are also used to determine the type of thalassemia and whether a person is an asymptomatic carrier. www.genotica.com we have genetic tests who study this disease and its related mutations, such as the case of AmpliHBB , by Ampligen.
Treatment
Currently, this disease is treated with occasional red blood cell transfusions, iron chelators, and other supportive measures. All of these treatments are aimed at alleviating the hemoglobin deficiency.