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Thalassemia

What is Thalassemia?

Thalassemia, also known as Mediterranean anemia, involves a group of inherited blood disorders in which there is a defect in the production of hemoglobin. Hemoglobin is a protein which allows blood to carry oxygen and nutrients throughout the body. The problem producing hemoglobin results in anemia. Mild forms of thalassemia may not require any treatment. However, more severe types of thalassemia can be life threatening and require blood transfusions on a regular basis.

People who simply carry the thalassemia gene may not realize it because they often have no symptoms and function normally. However, if two carriers produce a child, there is a 25% chance that the child will be born with the more severe form of thalassemia. A simple blood test either before conception or during pregnancy can determine whether either parent carries the gene for thalassemia.

Hemoglobin consists of two different proteins, an alpha protein and a beta protein. People who have defective production of the alpha protein are said to have alpha thalassemia, and those with defective production of the beta protein are said to have beta thalassemia.

Standards of Care for Prenatal Diagnosis of Thalassemia

A careful history should be taken from all pregnant women seeking to identify risk factors for genetic disorders. Information should include the health status and presence of genetic disorders or carrier status of parents and relatives, as well as an inquiry about ethnic and racial background. If either parent is at increased risk for thalassemia based on their genetic background, a blood test should be offered testing for the thalassemia gene.

According to the National Institute of Health, Alpha thalassemias most often affect people of Southeast Asian, Indian, Chinese, or Filipino descent, and Beta thalassemias most often affect people of Mediterranean (Greek, Italian, and Middle Eastern), Asian, or African descent.

If either parent is at increased risk for thalassemia based on their genetic background, a simple blood test either before conception or during pregnancy can determine whether either parent carries the gene for thalassemia. If both parents are carriers, there is a 25% chance that the child will be born with sickle cell disease. Diagnostic testing with Chorionic Villus Sampling (CVS) or Amniocentesis can then be performed.

  • Chorionic Villus Sampling (CVS)
    At 10 to 13 weeks gestation, a small piece of placental tissue (chorionic villi) is taken from the uterus. The tissue is then analyzed for genetic abnormalities, including thalassemia. CVS allows medical providers to confirm the presence of many genetic abnormalities, including thalassemia. It is, therefore, considered a diagnostic procedure. While CVS does carry some slight risk of miscarriage, with the use of modern methods, this risk has been significantly reduced.
  • Amniocentesis
    A thin needle is inserted to get a small sample of amniotic fluid, which surrounds the fetus in the womb. The fluid is then analyzed for genetic abnormalities, including thalassemia. This test allows medical providers to confirm the presence of many genetic abnormalities, including thalassemia. It is, therefore, considered a diagnostic procedure. While amniocentesis does carry some slight risk of miscarriage, with the use of modern methods, this risk has been significantly reduced.

Your Rights in the Event of a Thalassemia Misdiagnosis

In order to recover, parents generally must prove that a medical providers negligence prevented them from learning that there was an increased risk that the fetus had a significant birth defect or disease. They must also establish that they would likely have terminated the pregnancy had they been advised of the problem. In doing so, they are not in any way calling into question their love and devotion to their child – that relationship has already been established and will continue forever. Instead, they are merely acknowledging that if told of the defect or disease during the pregnancy, they would have likely chosen not to undertake the financial and emotional issues involved in parenting a child with a significant lifelong disease or disability.

The New Jersey Supreme Court has held that if a prenatal misdiagnosis claim is established, the negligent medical provider must provide compensation for the extraordinary expenses related to the child’s condition over the child’s lifetime. In addition, compensation must be provided to the parents for any emotional injury experienced in parenting a child with special needs. Prenatal misdiagnosis claims – which are sometimes referred to as “wrongful birth” cases – are permitted to varying degrees in some states, and are not permitted in other states. The law firm of Weiss & Paarz works with top rated medical malpractice law firms nationwide in pursuing cases.

What to Do After a Thalassemia Misdiagnosis

Thalassemia can vary greatly in severity, with symptoms ranging from very mild to severe and debilitating. Children with thalassemia require heightened attention from their parents and medical providers so that serious illness can be prevented or lessened. Medical monitoring is required over the course of such children’s lifetime, and in patient hospitalizations are typically required on an annual basis.

The expenses involved in making sure a child with thalassemia gets the best medical care possible over the course of that child’s lifetime can be enormous. There may be a significant difference in the treatment and services that private medical insurance, a public school system, or such programs as Medicaid will cover, and the most desirable state of the art treatment. If your child has thalassemia, and you did not learn of this diagnosis in time to exercise a choice as to whether to continue the pregnancy, you may be entitled to compensation. Proceeding with a claim may be the only way to ensure your child has the financial resources to access the best available care.

The law firm of Weiss & Paarz, P.C. limits its practice to representing victims of medical malpractice. We are highly experienced in representing parents of children with genetic blood disorders such as thalassemia.  Although we are based in New Jersey, we affiliate with top rated medical malpractice law firms nationwide in pursuing cases. There is never any fee if there is no recovery.  If you would like to discuss the possibility of pursuing a claim, please contact Weiss & Paarz, P.C., today.

Additional Resources for Sickle Cell Disease: