Summary about Disease
Bart's Hemoglobinuria, more accurately referred to as Hemoglobin Bart's Hydrops Fetalis Syndrome, is the most severe form of alpha thalassemia. It results from the deletion of all four alpha-globin genes, leading to the absence of alpha-globin chain production. Consequently, only gamma-globin chains are produced, forming Hemoglobin Bart's (γ4). This hemoglobin has an extremely high affinity for oxygen, preventing oxygen release to tissues. This condition is almost always fatal in utero or shortly after birth.
Symptoms
Severe anemia
Generalized edema (hydrops fetalis)
Enlarged liver and spleen (hepatosplenomegaly)
Pleural effusions (fluid around the lungs)
Pericardial effusions (fluid around the heart)
Ascites (fluid in the abdomen)
Severe jaundice
Abnormal development
Causes
Hemoglobin Bart's Hydrops Fetalis Syndrome is caused by the deletion of all four alpha-globin genes on chromosome 16. Since each person inherits two copies of each gene (two from each parent), both parents must be carriers (having one or two affected genes) to produce a child with this condition. It's a genetic condition and not caused by infection or environmental factors.
Medicine Used
There is no cure for Hemoglobin Bart's Hydrops Fetalis Syndrome. Historically, the condition was universally fatal. In utero blood transfusions and intensive neonatal care (including exchange transfusions) have led to rare cases of survival, but these survivors typically require lifelong blood transfusions and may have significant developmental challenges. Bone marrow transplantation may be a possible treatment avenue for long-term management in the rare cases of survival.
Is Communicable
No, Hemoglobin Bart's Hydrops Fetalis Syndrome is not communicable. It is a genetic disorder, meaning it is passed down from parents to their offspring through genes. It cannot be spread from person to person like an infectious disease.
Precautions
Since it's a genetic condition, precautions primarily involve genetic counseling and prenatal testing for couples at risk of having a child with alpha thalassemia.
Genetic Counseling: Couples with a family history of alpha thalassemia or of Southeast Asian, Chinese, or Mediterranean descent should seek genetic counseling to determine their risk of being carriers.
Prenatal Testing: If both parents are carriers, prenatal testing (chorionic villus sampling or amniocentesis) can be performed to determine if the fetus is affected.
How long does an outbreak last?
There is no "outbreak" associated with Hemoglobin Bart's Hydrops Fetalis Syndrome. It is a congenital condition, present from conception. If the infant survives to term, the symptoms are present at birth.
How is it diagnosed?
Prenatal Diagnosis: Can be suspected via ultrasound findings during pregnancy (hydrops fetalis, enlarged organs). Diagnosis is confirmed through genetic testing (chorionic villus sampling or amniocentesis) to detect the absence of alpha-globin genes.
Postnatal Diagnosis: Severe anemia and the presence of Hemoglobin Bart's (γ4) on hemoglobin electrophoresis in a newborn with hydrops fetalis are indicative of the condition. Genetic testing can confirm the diagnosis.
Timeline of Symptoms
The condition is present from conception. Ultrasound findings suggestive of hydrops fetalis can be seen as early as the second trimester of pregnancy. If the pregnancy continues to term, severe symptoms are present at birth.
Prenatal: Hydrops fetalis detected via ultrasound
Birth: Severe anemia, edema, enlarged organs, jaundice
Important Considerations
Genetic Counseling is Critical: Accurate diagnosis of carrier status and comprehensive genetic counseling are crucial for at-risk couples.
Severity: This is the most severe form of alpha thalassemia.
Ethical Considerations: Prenatal diagnosis raises ethical considerations regarding pregnancy termination.
Rare Survival: While historically fatal, advances in in utero and neonatal care have led to extremely rare cases of survival, requiring lifelong intensive medical management.