Ball cell anemia

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Classification according to ICD-10
D58.0 Hereditary spherocytosis
ICD-10 online (WHO version 2019)

The spherocytosis ( hereditary spherocytosis ) is an almost exclusively congenital hemolytic anemia (anemia by pathologically increased destruction of red blood cells). It is the most common haemolytic anemia in Central Europe, the prevalence is at least 1: 2000, but is probably higher.

root cause

Normal red blood cells (biconcave) in top view (a) and side view (b),
spherical cells (c) and thorn apple cells (d).

Due to a defect in components of the cytoskeleton ( ankyrin in about 50% of cases, band 3 and spectrin in about 20% each, etc.), the biconcave shape of the red blood cells ( erythrocytes ) is lost. The erythrocytes take on the energetically more favorable spherical shape ( spherocyte ). Such blood cells are increasingly broken down in the spleen . The red blood pigment ( hemoglobin ) released is broken down in the blood to form the yellowish bile pigment bilirubin , which is absorbed by the liver , glucuronidated and excreted in the bile.

There are different variants of the disease, which are inherited differently. For the most common variant (65%), it is sufficient that one parent has the disease ( autosomal - dominant inheritance ), with the defect on chromosome 8 . The remaining cases are either spontaneous new occurrences (new mutations ) or they are variants in which both parents carry the genetic makeup, but do not necessarily have to be diseased ( recessive inheritance , 15%).

Clinical picture

The spherocytes are already metabolically damaged when they pass through the spleen and are subsequently partially or completely lysed . The spleen almost always swells up and the manifest picture of splenomegaly occurs .

During the subsequent passage through the liver , the increased bilirubin attack during the further breakdown usually overloads this elimination system. An initially non-infectious jaundice ( jaundice ) is the result. The greater the breakdown of blood cells, the greater the severity of the disease, ie the greater the anemia and possibly jaundice. The excess of bile pigment can also lead to gallstones .

As a result of the increased iron turnover as part of the increased breakdown of erythrocytes, hemochromatosis (iron storage in the liver with cirrhotic remodeling ) can occur in the further course of the disease .

The symptoms of the disease are characterized by anemia , fatigue, exhaustion, poor performance and resilience, paleness, headache, shortness of breath, concentration disorders and palpitations. If the disease occurs in childhood, it can also lead to mental and physical developmental disorders.

Sometimes, especially with certain viral infections (e.g. with parvovirus B19 , the pathogen causing rubella ), the breakdown of red blood cells is massively increased and so-called hemolytic crises occur , which can also be life-threatening. The replication of red blood cells in the bone marrow can be severely reduced ( aplasia ). In hemolytic crises, fevers with chills, collapse and head / stomach / back pain and jaundice ( jaundice ) occur.

Investigation methods

Blood smear : There are characteristic spherical cells ( spherocytes ) that are smaller than normal erythrocytes (microcytic) and that lack the central brightening. There is also a polychromatism (changed, “varied” coloring behavior). There are also more reticulocytes (precursors of the red blood cells) and a strong increase in the distribution of erythrocytes in the blood.

Laboratory values : blood pigment ( hemoglobin , Hb) is lowered to normal, mean corpuscular hemoglobin concentration (MCHC) increased mean corpuscular volume (MCV) is lowered, increased proportion of hyperchromic erythrocytes (% HYPER), lactate dehydrogenase increased (LDH), indirect bilirubin is increased, haptoglobin decreased.

Special examinations : The spherocytes show, compared to normal erythrocytes, a reduced osmotic resistance (resistance). If the spherocytes are placed in a solution with a lower concentration of salts than in the blood ( hypoosmolar solution, e.g. Acidified Glycerol Lysis Test , AGLT), they burst earlier than healthy erythrocytes. The disease can be confirmed and its severity quantified using osmotic gradient ectacytometry . Furthermore, the erythrocyte creatine is increased as the erythrocyte population is rejuvenated. Two other tests that are not based on decreased osmotic fragility are the flow cytometric detection of decreased binding of eosin maleimide and the hypertonic cryohemolysis test.

therapy

Removing the spleen ( splenectomy ) is the only thing that can prevent the excessive breakdown of red blood cells. However, the removal of the spleen is associated with an increased risk of infection , so that the disease process is usually awaited first. The spleen is only removed when several hemolytic crises have occurred, blood transfusions have been administered or the patient is only able to perform to a limited extent. The earliest possible date for the operation is after the age of 5. A previous vaccination against pneumococci , meningococci and Haemophilus influenzae type B is required, as there is a risk of post-splenectomy syndrome after total spleen removal .

In the meantime, there is also the option of only partially removing the spleen instead of completely removing the spleen. A small part of the spleen is left in place in order to avoid the above. To minimize the risk of infection.

Web links

swell

  • Kai Joachim Bühling, Julia Lepenies, Karsten Witt: Intensive course: General and special pathology. 4th edition. Elsevier Verlag, Munich 2008, ISBN 978-3-437-42412-0 .
  • Ursus-Nikolaus Riede, Hans-Eckart Schäfer, Martin Werner (Hrsg.): General and special pathology. 5th edition. Thieme Verlag, Stuttgart 2004, ISBN 3-13-683305-8 .
  • Walter Siegenthaler, Hubert E. Blum: Clinical pathophysiology. 9th edition. Thieme Verlag, Stuttgart 2006, ISBN 3-13-449609-7 .
  1. ↑ J. Delaunay: The molecular basis of hereditary red cell membrane disorders. In: Blood Rev . 2007 Jan; 21 (1), pp. 1-20. PMID 16730867
  2. ↑ JW Deuel, HU Lutz, B. Misselwitz, JS Goede: Asymptomatic elevation of the hyperchromic red blood cell subpopulation is associated with decreased red cell deformability. In: Ann Hematol. 2012 Apr 18. PMID 22526368
  3. ↑ SW Eber, A. Pekrun, A. Neufeldt, W. Schröter: Prevalence of increased osmotic fragility of erythrocytes in German blood donors: screening using a modified glycerol lysis test. In: Ann Hematol. 1992 Feb; 64 (2), pp. 88-92. PMID 1554800