Thalassemia (also called Mediterranean anemia) is an inherited disorder of hemoglobin synthesis that result in alteration of the rate of globin chain production. Hemoglobin is the substance in the red blood cells that carry oxygen from the lungs to other parts of the body. Normal hemoglobin has 2 types of chains (alpha and beta) with each other at a ratio of 1 to 1 to form normal hemoglobin. The hemoglobin itself is normal, it is the imbalance of production that results in less hemoglobin in each red blood cell (hypocromasia). The type of thalassemia usually carries the name of the underproduced chain or chains.
Four genes are involved in the production of the alpha hemoglobin chain. A child gets two genes from each parent. The more defective genes, the more severe the thalassemia. when one gene is defective, the individual is considered a carrier and has no signs or symptoms of the disease. When two genes are defective, the condition is called thalassemia minor with mild signs and symptoms of the disease. When three genes are defective, signs and symptoms are moderate to severe and the condition is called hemoglobin H disease. When all four alpha genes are defective, the condition is called 'alpha thalassemia major'; it usually causes a fetus to die in- utero or shortly after birth. Alpha thalassemia mostly affects people of Asian, Indian, Chinese or Filipino origin.
Two genes are involved in the production of the beta hemoglobin chain. A child gets one gene from each parent. The severity of the disease depends whether one or both genes are affected and the nature of the abnormality. Clinical forms of beta thalassemia range from 'Silent carrier' to beta thalassemia major (also called Cooley's anemia). Babies are healthy at birth and if not treated, the disease is usually fatal. Complications precipitated by the disease or its treatment cause severe morbidity and mortality in severe forms of beta thalassemia. Beta thalassemia mostly affects people of Greek, Italian, Middle eastern, Asian and African ancestry.
Treatment of thalassemia depends on the type and severity of the disease. Carriers are usually asymptomatic and require no treatment. Those individuals with moderate thalassemia require an occasional blood transfusion. The need for regular blood transfusions reclassifies that individual as suffering major thalassemia.
Blood transfusions, while lifesaving, carries major risks. Risks of transmitted infections (hepatitis) are compounded by risks of iron overload from repeated blood transfusions that create tissue toxicity. Chelation therapy (medications used to remove the excess of iron build ups in the body) is utilized together with blood transfusions in the treatment of major thalassemia. Many patients require splenectomies (removal of the spleen) to decrease the destruction of red blood cells. Removal of the spleen is controversial because the spleen acts as a store for nontoxic iron, thereby protecting the rest of the body from this iron.
Carrier testing is used to identify individuals (not affected) who carry one copy of a gene mutation that, when present in two copies, causes a genetic disorder. If both parents are carriers, genetic counseling is required. A detailed discussion must include the 1 in 4 chances of having a severely affected child and 1 in 2 chances of having a child with heterozygous thalassemia.
Screening of children and pregnant women is effective in identifying individuals at risk who require further testing. A simple CBC (complete blood count) is the aim of the screening process. Persons suspected to be positive for thalassemia are then checked for elevated levels of the respective hemoglobin chain.
The ideal time for genetic counseling is before a woman gets pregnant. Ethnic origin and family history are indicators for the need for genetic counseling to avoid passing the disorder to their children. In a pregnant woman, screening may start by evaluating the child's father. If the father is negative, the child could become a carrier but will not suffer from major thalassemia. If the father is a thalassemia carrier, the unborn child can be tested by means of chorionic villus sampling or by amniocentesis. When both parents are carriers of thalassemia, assisted reproductive technologies that combine pre-implantation genetic diagnosis with in-vitro fertilization is now available to help parents prevent the transmission of this genetic disorder.
If your child suffers from thalassemia major and you were not given the option to undergo genetic counseling and/or genetic testing, Dr. Borten and the Boston area medical malpractice attorneys at Gorovitz & Borten can help you assert your rights and get the compensation you deserve.
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