Definition
Hereditary spherocytosis is a form of chronic hemolytic anemia.
This disorder is secondary to alterations of erythrocyte cell membrane proteins, such as spectrin, which induce premature hemolysis. The result is a reduction of the erythrocyte membrane surface, which results in the formation of spherocytes (smaller, spherical and less deformable red blood cells) and in the decreased osmotic resistance of red blood cells when passing through the splenic microcirculation.
Spherocytosis is inherited as an autosomal dominant and sometimes recessive trait. The symptomatology can be evident only after adolescence, although the defect is congenital, therefore present from birth.
Most common symptoms and signs *
- Adynamia
- Anemia
- anisocytosis
- Asthenia
- brachydactyly
- Chills
- Biliary colic
- Dysodontiasis
- Abdominal pain
- hemoglobinuria
- Hepatomegaly
- Exophthalmos
- Temperature
- Hypotension
- Jaundice
- Backache
- Nausea
- Pallor
- polydactyly
- splenomegaly
- Skin Ulcers
- Dark urine
- Dizziness
Further indications
Hereditary spherocytosis can manifest itself as a generally modest disease (in which anemia can be well compensated) or with more severe clinical pictures.
Symptoms include varying degrees of anemia, jaundice and splenomegaly.
The enlargement of the spleen is almost always present and evident on physical examination, but only rarely causes abdominal disorders.
Cholelithiasis due to increased production of bile pigments (bilirubin gallstones) is frequent and may represent the onset symptom. Occasionally, there are congenital skeletal anomalies (eg turricephaly, brachydactyly and polydactyly), malleolar ulcers, exophthalmos (protrusion of the eyeball) and disodontiasis (difficulty in erupting dental elements). The patient with spherocytosis can also manifest hepatomegaly.
The diagnosis of hereditary spherocytosis requires the demonstration of the presence of spherocytes on the blood smear, an increased osmotic fragility of red blood cells and a direct test of the negative antiglobulin.
Splenectomy is the only specific treatment for symptomatic disease, but it is rarely necessary.
