What is Minkowski Chauffard disease?

What is Minkowski Chauffard disease?

Minkowski Chauffard disease is transmitted in a dominant autosomical pattern; it is caused by abnormal eritrocitary morphology due to specific protein deficiencies. Also known as hereditary spherocytosis, it is the main cause of hereditary haemolytic anemia; it is also characterized by splenomegaly and jaundice.

Which is the most common protein deficiency causing hereditary spherocytosis?

The integrating protein that is most commonly defective is spectrin which is responsible for incorporation and binding of spectrin, thus in its dysfunction cytoskeletal instabilities ensue. The primary defect in hereditary spherocytosis is a deficiency of membrane surface area.

Is hereditary spherocytosis fatal?

Overall, the long-term outlook ( prognosis ) for people with hereditary spherocytosis (HS) is usually good with treatment. However, it may depend on the severity of the condition in each person. HS is often classified as being mild, moderate or severe.

What is the confirmatory test for hereditary spherocytosis?

The association of an eosin-5′-maleimide-binding test and an acidified glycerol lysis test enabled identification of all patients with hereditary spherocytosis in this series and, therefore, represents a currently effective diagnostic strategy for hereditary spherocytosis including mild/compensated cases.

Is spherocytosis an autoimmune disease?

Spherocytosis may be present in autoimmune hemolytic anemia in which autoantibodies react with red blood cells and cause alterations in their membranes that includes lysis of red blood cells.

What triggers hereditary spherocytosis?

Mutations in at least five genes cause hereditary spherocytosis. These genes provide instructions for producing proteins that are found on the membranes of red blood cells. These proteins transport molecules into and out of cells, attach to other proteins, and maintain cell structure.

Does spherocytosis affect child?

The symptoms of spherocytosis are minor in some children. But for many children the condition is more serious. Your child may get these common symptoms of anemia: Pale skin, lips or nail beds compared to their normal color.

Why MCHC is high in spherocytosis?

In spherocytosis, the MCHC is increased due to loss of membrane and the consequent spherical shape assumed by the cell. The general availability of RDW as a measure of anisocytosis helps further in the evaluation of anemias based on morphology (see Table 152.2).

What is the normal value of MCHC?

The reference range for MCHC in adults is 33.4–35.5 grams per deciliter (g/dL). If your MCHC value is below 33.4 grams per deciliter, you have low MCHC. Low MCHC values occur if you have anemia due to iron deficiency.