Thalassemia

Thalassema is a hereditary genetic condition people are born with.ย  There are two types, Thalassemia alpha & beta.ย  Since we inherit genes from both parents, if we get a Thalassemia gene from only one parent, we have what’s called Thalassemia Trait (or Minor).ย  This causes a lifelong anemia with small red blood cells (RBCs).ย  But if a rare baby is unlucky enough to get two of the genes, one from each parent, they develop a severe hemolytic anemia (RBCs break apart), which may kill them by a year old.

Thalassemia occurs among people of Mediterranean, Asian, and African descent (including all of Latin America, where there are Spanish genes).  Most of the time, we identify people with Trait.  Because it’s genetic, no treatment helps.  The disease is harmless.  Despite the anemia, people function normally.

The only danger is if an unsuspecting clinician sees a test result showing anemia with small RBCs, and diagnoses “iron deficiency,” which also causes anemia with small RBCs, and which is much more common.ย  Then the patient will be given useless iron treatment, which can accumulate & cause liver damage.ย  Thalassemia is diagnosed by a blood test called Hemoglobin Electrophoresis, which measures our different types of hemoglobin and can show a Thalassemic pattern. Identifying Thalassemia trait is important among childbearing couples.ย  If a pregnant woman has Trait, and the father of her baby does also, prenatal diagnosis of the fetus is possible by amniocentesis or chorionic villi sampling.ย  Extensive counseling is required, since there are all sorts of subtleties to the results, and an implication might (or might not) be pregnancy termination if the baby is affected.

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