What is the problem with thalassemia?
Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued. If you have mild thalassemia, you might not need treatment.
Is thalassemia major incompatible with life?
Hydrops fetalis (alpha thalassemia major) is incompatible with life and requires identification in utero and in utero transfusions if the fetus is to survive and be born.
Why is thalassemia a genetic disease?
Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells.
What mutation causes thalassemia?
Thalassemia is an inherited autosomal recessive disease resulting from mutations in the α- and β-globin gene clusters on chromosome 16 and chromosome 11, respectively. It is characterized by the absence or reduced synthesis of globin chains of hemoglobin and includes two main types, α- and β- thalassemia (1, 2).
What is the life expectancy of someone with thalassemia?
Persons with the thalassemia trait have a normal life expectancy. Persons with beta thalassemia major often die from cardiac complications of iron overload by 30 years of age.
Why is RBC count high in thalassemia?
In beta-thalassemia major, anemia is severe, often with hemoglobin ≤ 6 g/dL (≤ 60 g/L). Red blood cell count is elevated relative to hemoglobin because the cells are very microcytic.
What are the problems caused by the mutation?
Some well-known inherited genetic disorders include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness, among many others. All of these disorders are caused by the mutation of a single gene.
Is thalassemia a point mutation?
Beta thalassemia results from point mutations in the beta-globin gene. It is divided into three categories based on the zygosity of the beta-gene mutation. A heterozygous mutation (beta-plus thalassemia) results in beta-thalassemia minor in which beta chains are underproduced. It is mild and usually asymptomatic.
Is thalassemia chromosomal disorder?
Both alpha- and beta-thalassemia are generally inherited in an autosomal recessive pattern. This means that males and females are affected equally by thalessemia, as it does not involve the sex chromosome.
What is the most common cause of Anaemia?
The most common causes of anaemia include nutritional deficiencies, particularly iron deficiency, though deficiencies in folate, vitamins B12 and A are also important causes; haemoglobinopathies; and infectious diseases, such as malaria, tuberculosis, HIV and parasitic infections.
What is thalassemia and what causes it?
Thalassemia is actually a group of inherited diseases of the blood that affect a person’s ability to produce hemoglobin, resulting in anemia. Hemoglobin is a protein in red blood cells that carries oxygen and nutrients to cells in the body.
Why do people with thalassemia need blood transfusions?
Some people with thalassemia – usually with thalassemia major – need regular blood transfusions because their body makes such low amounts of hemoglobin. People with thalassemia intermedia (not as severe as major, but not as mild as trait) may need blood transfusions sometimes, such as when they have an infection or an illness.
What is the long-term outlook for people with thalassemia?
The long-term outlook ( prognosis) for people with thalassemia depends on the type and severity of the condition. For example, severe thalassemia can cause early death due to heart failure, while less severe forms of thalassemia often do not shorten lifespan. [1]
What is the difference between thalassemia major and minor?
Inheriting the gene from both parents is called thalassemia major. Inheriting it from one parent is called thalassemia minor. Most carriers (people who have the gene but do not have the disorder) are symptom free.
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