Congenital hemolytic anemia (CHA) is a diverse group of rare hereditary conditions marked by decreased life expectancy and premature removal of erythrocytes from blood flow.
CHA is distinguished by variable anemia, chronic extravascular hemolysis, decreased erythrocyte life span, splenomegaly, jaundice, biliary lithiasis, and iron overload.
Immune-mediated mechanisms may play a role in the pathogenesis of these uncommon diseases, despite the paucity of data regarding the immune system's involvement in CHAs.
[1] Hereditary spherocytosis is a common hemolytic disorder distinguished by a defect or deficiency within one or more of the proteins that make up the membrane of the red blood cell.
As a result of this, red blood cells have an abnormal shape, require more metabolic energy, and are trapped and destroyed prematurely in the spleen.
[3] Hereditary elliptocytosis is a group of red blood cell membrane disorders characterized by elliptical erythrocytes and decreased RBC survival.
[13] The symptoms of pyruvate kinase deficiency are mild to severe hemolytic Anemia, cholecystolithiasis, tachycardia, hemochromatosis, icteric sclera, splenomegaly, leg ulcers, jaundice, fatigue, and shortness of breath.
A few indications and symptoms include anemia, sporadic episodes of excruciating pain, hand and foot edema, recurrent infections, delayed puberty or growth, and visual issues.
[19] The goal of sickle cell anemia treatment is usually to avoid pain episodes, relieve symptoms, and prevent complications.
The use of hydroxyurea on a daily basis decreases the frequency of painful crises and may reduce the demand for blood transfusions and hospitalizations.
[21] The diagnosis of congenital dyserythropoietic anemia can be done via sequence analysis of the entire coding region, types I,[22] II,[23] III[24] and IV.
Other symptoms of thalassemia include bone problems, an enlarged spleen, yellowish skin, pulmonary hypertension, and dark urine.