Bart's disease is not a single, well-defined condition. The term "Bart's" can refer to two distinct and unrelated conditions:
1. Bart's Syndrome (Skin Condition)
Bart's syndrome, as described in 1966, is characterized by one or more of the following: congenital absence of skin, blistering, and nail abnormalities. Congenital absence of skin is now understood as a manifestation of epidermolysis bullosa (EB). This is a rare genetic disorder causing extremely fragile skin.
- Key Features: Congenital absence of skin, blistering, nail abnormalities.
- Modern Understanding: A form of epidermolysis bullosa.
2. Hemoglobin Bart's Hydrops Fetalis (Blood Disorder)
Hemoglobin Bart's hydrops fetalis is a severe form of alpha-thalassemia. This is a blood disorder resulting from a deficiency in alpha-globin chains, crucial components of hemoglobin. The absence of functional alpha-globin genes leads to the formation of hemoglobin Bart's (Hb Bart's), which is ineffective at carrying oxygen. This causes severe anemia (a deficiency of red blood cells or hemoglobin in the blood) that begins before birth. Hydrops fetalis, a buildup of excess fluid in the body, is a characteristic feature.
- Key Features: Severe anemia, hydrops fetalis (fluid buildup), often fatal before birth.
- Cause: A severe type of alpha-thalassemia due to absent or non-functional alpha-globin genes.
- Severity: This is a very serious condition with often lethal consequences.
In summary, the term "Bart's disease" is ambiguous and needs clarification. It could refer to a rare skin condition (Bart's syndrome, related to epidermolysis bullosa) or a severe, often fatal blood disorder (Hemoglobin Bart's hydrops fetalis, a form of alpha-thalassemia). The context is crucial for understanding which condition is being referenced.
