Premium Nahrungsergänzungsmittel | artgerecht

D58.0 Hereditary Spherocytosis -- ICD-10 Explained

D58.0 is the ICD-10 code for hereditary spherocytosis, an inherited hemolytic anemia in which red blood cells take on a spherical shape and are prematurely destroyed.

Regular tips about health Regular tips about health

Things worth knowing about "D58.0"

D58.0 is the ICD-10 code for hereditary spherocytosis, an inherited hemolytic anemia in which red blood cells take on a spherical shape and are prematurely destroyed.

What Does ICD-10 Code D58.0 Mean?

The ICD-10 code D58.0 refers to hereditary spherocytosis (also known as congenital spherocytic anemia or Minkowski-Chauffard syndrome). It is an inherited hemolytic anemia in which red blood cells (erythrocytes) have a spherical shape instead of the normal biconcave disc shape due to a genetic defect. These abnormal cells, called spherocytes, are less flexible and are prematurely removed from circulation by the spleen, leading to anemia.

Causes

Hereditary spherocytosis is caused by mutations in genes encoding proteins of the red blood cell membrane skeleton. The most commonly affected proteins include:

Ankyrin (most frequent cause)
Band 3 protein
Spectrin (α or β)
Protein 4.2

The condition is most commonly inherited in an autosomal dominant pattern, less often autosomal recessive. In approximately 25% of cases, the mutation arises de novo (new mutation with no family history).

Symptoms

Clinical severity varies widely, from asymptomatic to severe anemia. Common symptoms include:

Anemia: fatigue, pallor, reduced physical performance
Jaundice: elevated bilirubin levels due to accelerated red blood cell breakdown
Splenomegaly (enlarged spleen): caused by increased destruction of spherocytes
Gallstones (cholelithiasis): due to excess bilirubin production
Hemolytic crises: acute worsening of anemia, often triggered by infections
Aplastic crises: temporary failure of bone marrow red cell production, frequently caused by Parvovirus B19 infection

Diagnosis

Diagnosis is based on clinical findings, laboratory parameters, and specific diagnostic tests:

Blood count and peripheral blood smear: identification of spherocytes, elevated mean corpuscular hemoglobin concentration (MCHC)
Reticulocytosis: elevated reticulocyte count indicating compensatory increased red cell production
Elevated indirect bilirubin and lactate dehydrogenase (LDH)
Osmotic fragility test or eosin-5-maleimide (EMA) binding test: specific confirmatory tests
Molecular genetic analysis: used in atypical or uncertain cases to identify the causative mutation
Direct Coombs test: negative (to exclude autoimmune hemolytic anemia)

Treatment

Treatment depends on the severity of the disease:

Mild to Moderate Cases

Regular medical follow-up and blood count monitoring
Folic acid supplementation to support increased red blood cell production

Severe Cases

Splenectomy (surgical removal of the spleen): significantly reduces spherocyte destruction and improves anemia; generally recommended after the age of 6 to minimize infection risk
Post-splenectomy: lifelong vaccination (e.g., against pneumococci, meningococci, and Haemophilus influenzae type b) and, in some cases, antibiotic prophylaxis
Blood transfusions: required during severe hemolytic or aplastic crises

Prognosis

With timely diagnosis and appropriate management, the prognosis is generally favorable. Many affected individuals lead a normal life. Following a successful splenectomy, symptoms of anemia typically resolve completely, although spherocytes remain in the blood. Regular follow-up is important to detect and manage potential complications such as gallstones.

References

Eber S, Lux SE. Hereditary Spherocytosis -- Defects in Proteins That Connect the Membrane Skeleton to the Lipid Bilayer. Seminars in Hematology. 2004;41(2):118-141.
Bolton-Maggs PHB, Langer JC, Iolascon A, et al. Guidelines for the diagnosis and management of hereditary spherocytosis -- 2011 update. British Journal of Haematology. 2012;156(1):37-49.
World Health Organization. ICD-10 International Statistical Classification of Diseases and Related Health Problems, 10th Revision -- Code D58.0. WHO, Geneva.

Building Blocks for a Healthy Life

As an integrated manufacturer, we develop & produce evidence-based, patented, and non-patented formulations. We work exclusively with plant and natural extracts according to the strictest purity & quality standards.
The combination of science & modern technology with the laws of nature creates solutions consistently tailored to humans – for the highest good: health.