group of hereditary hemolytic anemias
an inherited anemia found chiefly among people of Mediterranean descent
A gentically transmitted hemolytic anemia caused by deficient hemoglobic synthesis that primarily affects people of Mediterranean origin. Of the two forms, thalassemia major is evident in infancy and is characterized by anemia, fever and failure to thrive. Confirmation involved microscopic examination of the red blood cells. Red blood cells are destroyed leaving large amounts of iron to be deposited in the skin. Iron is also deposited in the heart, liver and pancreas which may become fibrotic. Frequent blood transfusions are necessary to maintain the bloods ability to transport oxygen. There is currently no cure.
genetic defects in hemoglobin molecule causes a heterogeneous group of genetic disorders that have in common a depression or absence in the synthesis of - or -chains of normal hemoglobin A. Accumulation and precipitation of excess globin chains cause erythrocyte damage, chronic hemolysis and ineffective erythropoiesis.
A hereditary disorder that affects hemoglobin synthesis and produces anemia.
Inherited form of anemia in which red blood cells contain less hemoglobin than normal.
A group of hereditary anemias occurring in populations bordering the Mediterranean and Southeast Asia. The anemia is produced by a defective production rate of the alpha or beta hemoglobin polypeptide chain or decreased synthesis of the beta chain.
Inherited disorder in which there is a problem with hemoglobin (the agent that transfers oxygen to red blood cells) production.
a genetic blood disorder in which the bone marrow cannot form sufficient red cells and red cell survival is also reduced
This is a hereditary disorder that is characterized by defective production of hemoglobin. This leads to low production, and over destruction of red blood cells. Left untreated, this disorder can lead to a greater susceptibility to infections and on occasion heart failure or liver dysfunction. To treat Thalassemia, regular blood transfusions may be necessary. Less severe forms of thalassemia usually does not impact the life span.
An inherited form of anemia characterized by the defective production of hemoglobin. This inherited disorder is most commonly found in individuals of Mediterranean, black, or southeast Asian ancestry. In addition to the anemia, these patients also have an increased risk for thrombotic complications.
Any of a group of inherited disorders of hemoglobin metabolism.
an autosomal recessive condition caused by abnormal hemoglobin which leads to defective transportation of oxygen in the blood
a group of genetic blood disorders characterised by a defect in the ability to produce haemoglobin, leading to the rupturing of red blood cells (called haemolytic anaemia)
A group of anemias that are passed on in genetic material; from family member to other family members.
An inherited disorder of the gene in the red blood cells which results in the impaired ability to produce hemoglobin.
Inherited anemias (includes alpha thalassemia, beta thalassemia, etc.) found predominantly among people of Mediterranean descent.
Not just one disease but rather a complex series of genetic (inherited) disorders all of which involve underproduction of hemoglobin, the indispensable molecule in red blood cells that carries oxygen. The globin part of hemoglobin is made up of 4 polypeptide chains (usually 2 chains of one type and 2 chains of another type of chain). In thalassemia, there is a mutation (change) in one of the types of globin chains. Depending upon which globin chain is affected, the mutation typically leads to underproduction (or absence) of that globin chain, a deficiency of hemoglobin, and anemia.
A condition caused by a defect that affects the amount of hemoglobin produced. It is characterized by a reduction in or absence of the alpha (alpha-thalassemia) and/or beta (beta-thalassemia) globin chains that make up the hemoglobin molecule.
an inherited disorder of hemoglobin in red blood cells, characterized by anemia and found in individuals of Mediterranean, African, or southeast Asian ancestry
an inherited blood disorder in which the chains of the hemoglobin (a type of protein in red blood cells that carries oxygen to the tissues) molecule are decreased; alpha thalassemia is where a mutation occurs in the alpha chain, while beta thalassemia is where the mutation occurs in the beta chain; signs and symptoms of thalassemias vary from mild (little to no symptoms) to severe (life threatening).
a group of genetic blood diseases where the molecules inside red blood cells that carry oxygen are decreased or absent.
A group of chronic, inherited anemias. Particularly common in persons of Mediterranean, African and Southeast Asian ancestry. (Read about " Anemia")
A group of chronic, inherited anemias. Most often found in persons of Mediterranean, African and Southeast Asian descent.
An inherited genetic disorder of hemoglobin in red blood cells. Most common in individuals of Mediterranean, black, or Southeast Asian ancestry.
The thalassemias are a diverse group of genetic blood diseases characterized by absent or decreased production of normal hemoglobin, resulting in a microcytic anemia of varying degree. The thalassemias have a distribution concomitant with areas where P. falciparum malaria is common.
a group of genetic blood disorders characterized by a defect in the ability to produce hemoglobin, leading to the rupturing of red blood cells (called hemolytic anemia).
A group of inherited disorders of hemoglobin metabolism causing mild to severe anemia; usually found in people of Mediterranean, black, Chinese, or Asian descent.
The Condition"The fundamental abnormality in cases of thalassemia is impaired production of either the alpha or beta hemoglobin chain..." Related Topic"An inherited form of anemia occurring chiefly among people of Mediterranean descent, caused by faulty synthesis of part of the hemoglobin molecule..."
The Condition"...(b) The loss of two genes (two-gene deletion alpha thalassemia) produces a condition with small red blood cells, and at most a mild anemia..."
Thalassemia (American English) or thalassaemia (British English) is an inherited disease of the red blood cells. In thalassemia, the genetic defect results in reduced rate of synthesis of normal globin chains (c.f. hemoglobinopathy, which is a structural change in a globin chain leading to instability or abnormal oxygen transport). The blood cells are vulnerable to mechanical injury and die easily.