By Carol Guzman
Every year, on the 19th of June, we celebrate World
Sickle Cell Day to help raise awareness of the most commonly inherited blood disorders. You
have probably heard about sickle cell disease when learning about genetics in
your high school biology class, but have you heard of the ‘Jewish’ blood
disorder, beta thalassemia? Both diseases affect hemoglobin production, result
from mutations on the same gene, and can be passed down without any known
cells carry oxygen from your lungs to other parts of your body using a protein
called hemoglobin. Red blood cells are typically round and smooth and can
easily glide through blood vessels and deliver oxygen throughout the body. Sickle
cell diseases are a group of disorders that are caused by mutations in the hemoglobin – subunit beta
(HBB) gene. A specific HBB mutation causes
hemoglobin molecules to become abnormal, which leads the body’s red blood cells
to stiffen and sickle. The hardened and sickled red blood cells easily pile up
on one another, causing blockages in blood vessels, damage to vital organs, and
the inability to deliver oxygen to bodily tissues.
United States, sickle cell disease is most prevalent among African Americans. Currently,
the only cure for sickle cell disease involves a bone marrow/stem cell
transplant. However, many clinical trials are working to create a less dangerous cure for the
most common genetic disease.
specific HBB mutation causes a disease known as beta thalassemia. Rather than
having abnormal hemoglobin that causes red blood cells to sickle, people with beta
thalassemia do not make enough hemoglobin, resulting in a shortage of mature
red blood cells and lack of oxygen.
professionals recommend Sephardic Jews get screening for beta thalassemia, as it often occurs in people of Mediterranean, North African and Middle
the diseases result from different HBB mutations, they are typically inherited in
an autosomal recessive pattern. Both parents need to be carriers of beta thalassemia
or sickle cell disease in order to have a 25% risk of passing the disease down
to each of their children and a 50% risk of each child becoming a carrier for either
disease. A small number of cases have
shown that beta thalassemia can also be inherited in an autosomal dominant
manner, causing the disease to manifest in
someone with just one beta thalassemia HBB gene mutation.
screening test can detect various kinds of mutations on the HBB gene, including
the specific mutations for sickle cell disease or beta thalassemia. A doctor can also conduct a blood test on a newborn to check for sickle
cells or low amounts of red blood cells.
cell disease and beta thalassemia affect people worldwide. In Illinois, doctors
screen all newborns for sickle cell disease and beta thalassemia. Talk to your
doctor or a genetic counselor about adding beta thalassemia to your preconception
carrier screening panel if you have Mediterranean, North African or Middle
To learn more about the Sarnoff Center’s affordable,
accessible carrier screening program or to speak with a genetic counselor,
visit JewishGenetics.org/cjg/get-screened or
contact us at GeneticScreening@juf.org.