Hereditary spherocytosis is an autosomal dominant inherited hemolytic anemia. The mechanism of hemolysis is primarily due to defects in the red blood cell membrane structure, causing the red blood cells to become spherical and lose their "plasticity," leading to their destruction in the spleen and resulting in extravascular hemolysis. The disease can occur at any age, but is more common in children under 10 years old, with equal incidence in males and females.

bubble_chart Clinical Manifestations

1. The onset is insidious, presenting as a chronic course of hemolytic anemia and jaundice. Anemia and jaundice are mostly grade II, with younger age correlating to more severe conditions. Severe jaundice during the neonatal period can lead to bilirubin encephalopathy. Infections, trauma, or fatigue may exacerbate anemia and jaundice, potentially triggering a "hemolytic crisis." In addition to the rapid worsening of anemia and jaundice, symptoms such as fever, nausea, vomiting, pain in the waist, abdomen, and limbs, weakness, rapid pulse, or even shock may occur. An "aplastic crisis" (often caused by parvovirus B19 infection) may also develop, characterized by a sudden worsening of anemia without aggravated jaundice. Both hemolytic and aplastic crises typically resolve spontaneously within 1–2 weeks.
2. The liver and spleen are often significantly enlarged, with splenomegaly being more prominent—sometimes extending to the level of the umbilicus or even into the pelvis.

bubble_chart Auxiliary Examination

1. Blood picture: In addition to the general manifestations of hemolytic anemia, numerous spherocytes (>25%) can be observed. Reticulocytes are significantly increased (15-20%), and may reach 70% during hemolytic crisis. During aplastic crisis, pancytopenia may occur with decreased reticulocytes.
2. Other blood tests: Wet mount examination shows positive red cell rolling test. The red cell saline osmotic fragility test demonstrates increased fragility (a difference of 0.04 compared to normal controls is significant). This test may be negative when spherocytosis is not prominent, but osmotic fragility significantly increases after 24-48 hours of incubation. The autohemolysis test shows markedly increased hemolysis (15-40%), which can be completely corrected by adding glucose or ATP. Serum indirect bilirubin is elevated.
3. Bone marrow findings: Hyperplasia is vigorous, mainly with proliferation of intermediate and late-stage erythroblasts. During aplastic crisis, hypoplasia is observed, and giant proerythroblasts may be seen.

bubble_chart Diagnosis

A positive family history aids in diagnosis, but about 1/4 to 1/3 of cases may have no family history due to gene mutations.

bubble_chart Treatment Measures

1. General treatment: Blood transfusion should be administered when a hemolytic crisis or aplastic crisis occurs. Daily attention should be paid to preventing and treating infections. A small amount of folic acid should be given to prevent deficiency.
2. Splenectomy: This is the most effective treatment. Although spherocytes do not decrease after splenectomy and abnormal fragility tests remain unchanged, it can alleviate jaundice and improve anemia. It is best to delay splenectomy until after the age of 4 to reduce the risk of postoperative infections. Antibiotics should be administered postoperatively, and it is advisable to receive preventive vaccinations against pneumococcus, Haemophilus influenzae, and meningococcus before the surgery.