What are hemolytic diseases?
Dec 12, 2025
Source: Cainiu Health
Dr. Li Feng
Introduction
In general, common hemolytic diseases mainly include hereditary spherocytosis, glucose-6-phosphate dehydrogenase deficiency, thalassemia, autoimmune hemolytic anemia, and paroxysmal nocturnal hemoglobinuria. Hemolytic diseases have complex etiologies and varied clinical manifestations, requiring integration of medical history and laboratory tests for accurate diagnosis and targeted treatment.
Generally, common hemolytic diseases mainly include hereditary spherocytosis, glucose-6-phosphate dehydrogenase (G6PD) deficiency, thalassemia, autoimmune hemolytic anemia, and paroxysmal nocturnal hemoglobinuria. The details are as follows:
1. Hereditary spherocytosis: This is a hereditary disorder characterized by abnormalities in the red blood cell membrane, causing the cells to become spherical in shape and making them prone to destruction in the spleen. It manifests as recurrent jaundice, anemia, and splenomegaly. Some patients may develop gallstones, and the disease often presents during childhood.
2. Glucose-6-phosphate dehydrogenase deficiency: Also known as favism, this is a hereditary enzyme deficiency. After exposure to fava beans, certain medications, or infections, patients are prone to acute hemolysis, presenting symptoms such as fever, abdominal pain, hemoglobinuria, and anemia.
3. Thalassemia: A hereditary disorder caused by impaired globin chain synthesis, classified into alpha and beta types. Patients with mild forms may have minimal symptoms, while those with severe forms develop life-threatening anemia, jaundice, and hepatosplenomegaly soon after birth, requiring lifelong blood transfusions for survival.
4. Autoimmune hemolytic anemia: Hemolysis occurs due to the body producing autoantibodies against its own red blood cells, categorized into warm antibody type and cold antibody type. Symptoms include fatigue, jaundice, and dizziness; some patients may also have associated autoimmune disorders.
5. Paroxysmal nocturnal hemoglobinuria: An acquired disorder involving abnormal hematopoietic stem cells. Patients often notice dark, soy-sauce-colored urine upon waking or after sleep, commonly accompanied by anemia, bleeding tendencies, and infections. The disease progresses slowly but tends to relapse frequently.
Hemolytic diseases have complex etiologies and varied clinical presentations. Accurate diagnosis requires integration of medical history and laboratory tests, followed by targeted treatments to control hemolytic episodes and maintain normal bodily functions.
