Thalassemia

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Thalassemia is an inherited disease of faulty synthesis of hemoglobin. The name is derived from the Greek word "thalassa" meaning "the sea" because the condition was first described in populations living near the Mediterranean Sea; however, the disease is also prevalent in Africa, the Middle East, and Asia.

Thalassemia is an inherited disease, meaning that at least one of the parents must be a carrier for the disease. It is caused by either a genetic mutation or a deletion of certain key gene fragments. Alpha thalassemia is caused by alpha-globin gene deletion which results in reduced or absent production of alpha-globin chains.

Alpha globin gene. A variety of thalassemia phenotypes can result from simultaneous inherit-ance of two different thalassemia mutations from each parent or co-inheritance of thalassemia together with structural hemoglobin variants [].

Transfusion-dependence is one essential factor in distinguishing the various thalassemia phenotypes and their Size: 2MB. Thalassemia is seemingly the most common genetic abnormality in the world. It effects as many as 1 in 30 pregnancies in China, India, and Pakistan, 1 in pregnancies in Thailand, and 1 in pregnancies in Northern Europe and the United States.

Thalassemia is an inherited blood disorder that can be categorized by abnormal formation of. In book: Advances in the Study of Genetic Disorders thalassemia trait have a lower mean corpuscula r volume (MCV) and a higher red cell count.

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.

When there isn’t enough hemoglobin, the body’s red blood cells don’t function properly and they last shorter periods of time, so there are fewer healthy red blood cells. Sir David John Weatherall, GBE, FRS is a British physician and researcher in molecular genetics, haematology, pathology and clinical medicine.

Clegg is the author of The Thalassaemia Syndromes, 4th Edition, published by Wiley. Persons with beta thalassemia major require periodic lifelong blood transfusions to maintain hemoglobin levels higher than g per dL (95 g per L) and sustain normal growth.

B 2, Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia.

"Book Summary: Jude, a normal girl until the age of three, diagnosed with Beta Thalassemia Major has taught her to live life with passion and to be grateful for all her blessings. During the same year of Judes diagnosis, her sister Sarah was diagnosed with the same genetic blood disorder, leaving both their parents heartbroken.5/5.

Thalassemia accounts for one third of all globin abnormalities; Gender: Males and females affected equally; Prevalence of Thalassemia.

World wide: % ( live births) Among at risk ethnicities: %; Ethnicity. Alpha Thalassemia. African descent (2% Incidence) Asian patients (Incidence common) Beta Thalassemia. Thalassemia [Jude Kamal] on *FREE* shipping on qualifying offers.

Book Summary: Jude, a normal girl until the age of three, diagnosed with Beta Thalassemia Major has taught her to live life with passion and to be grateful for all her blessings.

During the same year of Jude's diagnosis/5(4). On average, patients who use Zocdoc can search for a doctor for Thalassemia, book an appointment, and see the doctor within 24 hours.

Same-day appointments are often available, you can search for real-time availability of doctors for Thalassemia in your area who accept your insurance and make an appointment online/5(61).

Thalassemia is a genetic blood disorder that impacts the ability of the blood to get oxygen to the body’s organs. Learn about the signs, how it’s diagnosed & treated. Beta thalassemia occurs if one or both genes are altered.

The severity of beta thalassemia depends on how much one or both genes are affected. If both genes are affected, the result is moderate to severe anemia. The severe form of beta thalassemia is known as thalassemia major or Cooley's anemia. Thalassemias affect males and females.

The thalassaemias are a group of recessively autosomal inherited disorders in globin chain production (1). it is charcterised by decreased or absence of either the alpha or the beta chains of normal adult human haemoglobin molecule, resulting in alpha and beta thalassaemia respectively (1).

Thalassemia is an inherited blood disorder. It causes the body to make less hemoglobin. There are several types of beta thalassemia. Different people will have different symptoms, based on which type of beta thalassemia is inherited. Treatment of beta thalassemia may include medicines and regular blood transfusions.

Thalassemia definition is - any of a group of inherited disorders of hemoglobin synthesis (such as Cooley's anemia) that are marked by mild to severe hypochromic and microcytic anemia, result from the partial or complete failure in production of one or more globin chains, and tend to occur especially in individuals of Mediterranean, African, or southeastern Asian ancestry.

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. Thalassemia is a treatable disorder that can be well-managed with blood transfusions and chelation therapy.

It is important for people with thalassemia to learn how to. Thalassaemia Patients Connect. likes. The Thalassaemia Patients Connect project, recently launched by the Thalassaemia International Federation (TIF), sets out to provide a shared communication Followers:.

Thalassemia is a very common disease first described by pediatrician Thomas Benton Cooley in who described it in a patient of Italian origin. At that time, it was designated as Cooley's anemia. George Hoyt Whipple, a Nobel prize winner, and W.

L. Bradford, a professor of pediatrics at the University of Rochester, coined the term thalassemia inwhich in Greek means Author: Isam AL-Zwaini.Thalassemia is a genetic blood disorder that causes hemoglobin deficiency and severe anemia, starving organs of oxygen, which inhibits their ability to function properly.

For more information, go to Care Team Elliott Vichinsky, MD Medical director, hematology/File Size: 1MB.β-Thalassemia is the most common inherited hemoglobinopathy in the world and is on the increase in Mediterranean, Middle Eastern, and Asian populations.

β-Thalassemia is a common genetic disease caused by the coinheritance of two mutant β-globin alleles [].The β-thalassemias are inherited in an autosomal recessive : Özgür Aldemir.