Gaucher disease is an autosomal recessive genetic disorder caused by mutations in the GBA gene. This gene contains the information necessary for the production of an enzyme called beta-glucocerebrosidase (GCase). Deficiency of GCase results in the accumulation of a fatty molecule called glucocerebroside in various organs to toxic levels.
Types of blood disorders seen in Gaucher patients
The most common blood disorder seen in type 1 Gaucher disease patients is low platelet count, or thrombocytopenia. Platelets, or thrombocytes, are blood cells that help in blood clotting. Low platelet count may cause bleeding in the gums and nose, making the patient prone to bruising. Heavy menstrual bleeding and hemorrhages (loss of blood from a ruptured blood vessel) due to minor injuries, surgery, or labor are also seen in as many as 43 percent of Gaucher disease patients.
Alongside low platelet counts, the levels of clotting factors in the blood are also greatly reduced in Gaucher disease patients, the most common deficiencies being factors II, V, and X.
Cells with accumulated glucocerebroside (Gaucher cells) often infiltrate the bone marrow in Gaucher disease. The bone marrow is where red blood cells (RBCs) are produced; the infiltration of Gaucher cells impairs the ability of the bone marrow to produce RBCs. This combined with the enlarged spleen (the spleen is the graveyard for damaged RBCs) results in anemia that ultimately leads to fatigue and shortness of breath.
Anemia and thrombocytopenia are observed in type 2 as well as in the Norrbottnian variant of type 3 Gaucher disease.
Treatment of blood disorders
Although there is no definitive cure for Gaucher disease, enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) are generally prescribed. Depending on the extent of bleeding and anemia, a blood transfusion might also be required.
It has been shown that the severity of thrombocytopenia can be reduced within one to two years of ERT if there is no splenomegaly (enlarged spleen). If thrombocytopenia is still persistent after four years of ERT, splenomegaly is the likely reason and the patient may be advised to undergo a splenectomy.
Clotting factor levels can also be normalized after regular administration of ERT after about 28 months.
Administration of recombinant erythropoietin (rEPO) may help in elevating RBC counts but carries a risk of thrombosis (clotting) and aggregation of RBCs. rEPO therapy is not needed for those who respond positively to ERT with increased hemoglobin levels.
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