Prenatal testing and pregnancy

Prenatal testing is vital initially with blood testing (hemoglobin electrophoresis, sickling test, genetic screening). Referring to the appropriate medical center is suggested, such as Mediterranean Anemia and Sickle cell Anemia Units or, if these are not available, to a hematology department of a general hospital in order to examine if we are carriers of the pathological gene or if we got the disease.

In case both of the parents are carriers of the pathological gene, then there is a 25% chance for the child to be born with sickle cell anemia, 25% of a healthy child and 50% of a child that is a carrier of the disease. In case that one of the parents has the disease and the other one is a carrier, there is a 50% chance for the child to have the disease and 50% for the child to be a carrier. If one parent has the disease and the other is healthy then all the children who will be born, will be carriers.

Adults that have the disease and have a partner who is a carrier of hemoglobin variant, resulting in inherent risks of an infant infected with the disease, should be informed about the genetic diagnostic options of prenatal or pre-implantation genetic testing. Pre-implantation genetic testing is a method where the diagnosis of a chromosomal abnormality, a genetic disease or some isolated cells (in some cases particles that burst from the ovum) before the implantation of the fetus in the uterus, after the process of in vitro fertilization, can be found.

In other cases, during the first few weeks of gestation testing can be achieved with trophoblastic acquisition or amniocentesis.

During the gestation of a sickle cell anemic mother, the risk level is high with many possible complications both for the mother and the infant, but they can be eradicated and have a successful conclusion, provided that the mother is being monitored and supported from specialized doctors and healthcare staff.

When the competent institutions (state and patient associations) intervene to support and inform the citizens, then they make decisions upon information before the conception and during pregnancy the parenting skills, the promotion of better understanding, the public awareness about the disease and the inclusion of the children in a thorough care program.

Prevention recommendations

In the context of prevention, those who suffer from sickle cell anemia (SCA) should be regularly monitored by a hematologist and/or a pathologist in Mediterranean Anemia and Sickle cell Anemia Units in Greece or by a specialized hematologist/pathologist in any other hospital. Moreover, they should get ophthalmic check, endocrinological check, cardiac work-up, liver testing, upper and lower abdominal ultrasound, bone testing (such as bone density measuring) and pulmonary testing regularly (every six months, once a year, once every two years or whenever necessary). Healthcare services are free of charge, provided by the national healthcare system to those who suffer from SCA.

More specifically, the prevention recommendations about SCA patients should be followed as they are a part of adult life and they are summarized below:

  • Regular contacts with specialized doctors and nursing staff, contact of diagnostic testing in order to establish whether there are any side effects after medication consuming or either the aggravation of the disease.
  • Informing the medical personnel over the risks of serious infections.
  • Complying with the vaccination schedule (pneumococcal, streptococcal, flu etc.)
  • Punctuality over the medication and supplements consuming, depending on the treatment each patient has (hydroxyurea, chelation therapy compounds, folic acid, vitamin D etc.)
  • Regular checks in collaboration with the attending physician concerning dental, eye, bone, heart, kidney, liver health etc.
  • Punctuality over regular chelations by transfusions.
  • Healthy diet containing lots of fruit, vegetable and sufficient daily water and fluid intake.
  • Avoiding smoking and alcohol abuse.
  • Developing of ways to manage negative emotions such as stress, anger and depression.
  • Light exercising as far as possible.
  • Having contact with supportive groups (family and friends)
  • Avoiding intense weather conditions (cold and heat) and also hypoxic conditions (altitude, where the air is oxygen depleted).
  • Avoiding stressful conditions, excessive physical fatigue, dehydration, weakening of immune function, inflammation etc.

Health issues related to sickle cell disease should be treated early in order to avoid late complications. Valid scientific information, help from patient associations, and build a trusting relationship with the attending physician is essential to manage and treat this multifactorial and diversified disease.