Gorovitz & Borten, P.C.
Attorneys at Law

550 Cochituate Road, SUite 25
Framingham, Massachusetts
Tel: (781) 890-9095
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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