Hereditary Elliptocytosis

Hematology

Clinicals - History

Fact Explanation
Family history A normal red cell has a 120 days lifespan. The red cell skeletal network helps in the special deforming ability of the red cell plasma membrane. In elliptocytosis, weakened “horizontal” linkages in membrane skeleton due either to a defective spectrin dimer-dimer interaction or a defective spectrin-actin-protein 4.1R junctional complex causes elliptical shaped red blood cells. Hence, the red cells hemolyze faster than it's normal variant by the reticuloendothelial system. The disorder is inherited in an autosomal dominant manner, as a result, the family history of similar disease should be evident. Family history
A normal red cell has a 120 days lifespan. The red cell skeletal network helps in the special deforming ability of the red cell plasma membrane. In elliptocytosis, weakened “horizontal” linkages in membrane skeleton due either to a defective spectrin dimer-dimer interaction or a defective spectrin-actin-protein 4.1R junctional complex causes elliptical shaped red blood cells. Hence, the red cells hemolyze faster than it's normal variant by the reticuloendothelial system. The disorder is inherited in an autosomal dominant manner, as a result, the family history of similar disease should be evident.
Incidental finding Most of the patients are asymptomatic and can be referred from another place due to an incidental finding of red cell morphology. Incidental finding
Most of the patients are asymptomatic and can be referred from another place due to an incidental finding of red cell morphology.
Low hemoglobin levels despite treated with hematinics several times The patients with milder form of disease present with anemia for long time which has not been correctable with hematinic therapy. Low hemoglobin levels despite treated with hematinics several times
The patients with milder form of disease present with anemia for long time which has not been correctable with hematinic therapy.
Yellow discolouration of eyes and skin Due to hyperbilirubinemia following hemolysis. Yellow discolouration of eyes and skin
Due to hyperbilirubinemia following hemolysis.
Shortness of breath Due to severe anemia, which is rare in hereditary elliptocytosis. Shortness of breath
Due to severe anemia, which is rare in hereditary elliptocytosis.
Previous or current gallstones Pigment stones due to hemolysis. Previous or current gallstones
Pigment stones due to hemolysis.

Clinicals - Examination

Fact Explanation
Pallor Due to anemia, which is due to hemolysis of the un-deformable red cells in the reticuloendothelial system. Pallor
Due to anemia, which is due to hemolysis of the un-deformable red cells in the reticuloendothelial system.
Icterus Due to hyperbilirubinemia in hemolysis. Icterus
Due to hyperbilirubinemia in hemolysis.
Splenomegaly Due to expansion of the reticuloendothelial system for excessive red blood cell destruction. Splenomegaly
Due to expansion of the reticuloendothelial system for excessive red blood cell destruction.
Leg ulcers Due to clogging of undeformable red blood cells in the peripheral arteries. Leg ulcers
Due to clogging of undeformable red blood cells in the peripheral arteries.

Investigations - Diagnosis

Fact Explanation
Hemoglobin level Low hemoglobin level due to hemolysis. The structurally abnormal red cells are destroyed at the reticuloendothelial system when passing through capillaries, just like in hereditary spherocytosis. Hemoglobin level
Low hemoglobin level due to hemolysis. The structurally abnormal red cells are destroyed at the reticuloendothelial system when passing through capillaries, just like in hereditary spherocytosis.
Serum bilirubin level Higher than the normal level due to hemolysis. The pathology is the same as hereditary spherocytosis, but milder in form. Serum bilirubin level
Higher than the normal level due to hemolysis. The pathology is the same as hereditary spherocytosis, but milder in form.
Blood picture Expected findings are elliptocytes, poikilocytes and nucleated red cells. The elliptocytes lack the central pallor. In cases where iron deficiency co-exists, there can be microcytes also. Blood picture
Expected findings are elliptocytes, poikilocytes and nucleated red cells. The elliptocytes lack the central pallor. In cases where iron deficiency co-exists, there can be microcytes also.
Reticulocyte count Higher reticulocyte level due to hemolysis. Reticulocyte count
Higher reticulocyte level due to hemolysis.
Serum haptoglobins Done by rapid diagnostic testing. In hemolytic conditions haptoglobins are usually low or undetectable since they bind to free hemoglobin in hemolysis. Serum haptoglobins
Done by rapid diagnostic testing. In hemolytic conditions haptoglobins are usually low or undetectable since they bind to free hemoglobin in hemolysis.
Lactic dehydrogenase Elevated in hemolytic anemias. Lactic dehydrogenase
Elevated in hemolytic anemias.
Osmotic fragility test Osmotic fragility is increased because of red cell membrane instability. Autohemolysis test, the hypertonic cryohemolysis test, and the acidified glycerol test can be used. Osmotic fragility test
Osmotic fragility is increased because of red cell membrane instability. Autohemolysis test, the hypertonic cryohemolysis test, and the acidified glycerol test can be used.
Red blood cell skeletal structure In elliptocytosis, weakened “horizontal” linkages in membrane skeleton due either to a defective spectrin dimer-dimer interaction or a defective spectrin-actin-protein 4.1R junctional complex causes elliptical shaped red blood cells. Red blood cell skeletal structure
In elliptocytosis, weakened “horizontal” linkages in membrane skeleton due either to a defective spectrin dimer-dimer interaction or a defective spectrin-actin-protein 4.1R junctional complex causes elliptical shaped red blood cells.

Investigations - Management

Fact Explanation
Complete blood count To evaluate the presence and development of anemia and hypersplenism. Complete blood count
To evaluate the presence and development of anemia and hypersplenism.
Ultrasound scan of the abdomen To exclude spenomegaly. Ultrasound scan of the abdomen
To exclude spenomegaly.

Management - Supportive

Fact Explanation
Pedigree analysis Since hereditary elliptocytosis is of autosomal dominant inheritance, it's important to analyze the family tree to find asymptomatic affected individuals. Pedigree analysis
Since hereditary elliptocytosis is of autosomal dominant inheritance, it's important to analyze the family tree to find asymptomatic affected individuals.
Patient education Education about the nature of inheritance, clinical course and it's prognosis as well as the importance of family tree screening is necessary in good management. Patient education
Education about the nature of inheritance, clinical course and it's prognosis as well as the importance of family tree screening is necessary in good management.

Management - Specific

Fact Explanation
Folate therapy Supplementation with folate is recommended in severe and moderate forms of haemolytic anaemia. Folate therapy
Supplementation with folate is recommended in severe and moderate forms of haemolytic anaemia.
Transfusions Red cell transfusions may be required in severely anaemic cases, particularly in the first years of life, and during pregnancy, aplastic crisis and infections. Transfusions
Red cell transfusions may be required in severely anaemic cases, particularly in the first years of life, and during pregnancy, aplastic crisis and infections.
Splenectomy Required only in severe forms. Pre-vaccination and post-splenectomy prophylaxis is necessary. Laparoscopy technique is now preferred. Splenectomy
Required only in severe forms. Pre-vaccination and post-splenectomy prophylaxis is necessary. Laparoscopy technique is now preferred.

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