Hydrops, Lactic Acidosis and Sideroblastic Anemia (HLASA)
OMIM number: 617021
Comments closing date: 08/05/2026
Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) is an autosomal recessive condition with highly variable, multi-systemic symptoms. The wide array of symptoms are ultimately caused by hydrops, which is the abnormal accumulation of fluid in varying areas of the body. This hydrops stems from heart abnormalities, as the heart must pump a larger amount of blood than normal to satisfy the oxygen demands of the body. Symptoms are multi-systemic and highly variable, though due to the pre-natal onset of the condition can lead to severe and debilitating effects for the newborn. Growth restriction in-utero, cardia abnormalities, lung, liver, pancreas and gastrointestinal issues. Neurological issues such as seizures developmental delay and decreased brain function are observed. Ultimately the severity and wide-array of multi-organ symptoms can lead to death in the post-natal period.
