Sage-Tips

How is hereditary Elliptocytosis treated?

There is no treatment needed for the disorder unless severe anemia or anemia symptoms occur. Surgery to remove the spleen may decrease the rate of red blood cell damage.

Which of the following are characteristics of hereditary Pyropoikilocytosis?

Results in hereditary pyropoikilocytosis include the following :

• Increased osmotic fragility.
• Decreased acid glycerol lysis time.
• Marked decrease in the maximum value of the deformability index (DI max), with a distorted trapezoidal profile, on osmotic gradient ektacytometry.

What is hereditary Elliptocytosis pathophysiology and lab diagnosis?

Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes ( jaundice ).

What is the difference between hereditary Elliptocytosis and hereditary spherocytosis?

Hereditary spherocytosis is characterized by hemolysis of spheroidal RBCs and anemia. Hereditary elliptocytosis (ovalocytosis) is a rare autosomal dominant disorder in which RBCs are oval or elliptical.

What do elliptocytes mean?

Elliptocytes are elongated oval-shaped red blood cells. Very rare elliptocytes may be seen in normal blood smears. Elliptocytes may be increased in iron deficiency anemia (where they are sometimes referred to as “pencil cells”) and marrow infiltrative processes (with teardrop cells).

Is hereditary Elliptocytosis a rare disease?

Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.

What causes Maha?

Possible causes of MAHA include mechanical heart valve, malignant hypertension, vasculitis, adenocarcinoma, preeclampsia/eclampsia, disseminated intravascular coagulation (DIC), thrombotic thrombocytopenic purpura (TTP), and hemolytic-uremic syndrome (HUS)/atypical HUS (see Chapter 20, Disorders of Hemostasis and …

What is the principal defect associated with hereditary Elliptocytosis?

The principal defect in HE is mechanical weakness or fragility of the erythrocyte membrane skeleton. Qualitative and quantitative defects in a number of red cell membrane proteins have been described in HE, including α spectrin, β spectrin, protein 4.1, and glycophorin C.

Is hereditary Elliptocytosis an autoimmune disease?

Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person’s red blood cells are elliptical rather than the typical biconcave disc shape….Common hereditary elliptocytosis.

Type	OMIM	Gene
EL4 or HS4 or SEO	109270	SLC4A1

In which conditions can you see Elliptocytes?

Elliptocytes can occur in many other conditions (eg, iron deficiency, leukemias, megaloblastic anemias, myeloproliferative diseases, myelodysplastic syndromes) but usually do not reach the proportions observed in patients with HE.

What are the symptoms of Poikilocytosis?

Symptoms of poikilocytosis

• fatigue.
• pale skin.
• weakness.
• shortness of breath.

Is MAHA a diagnosis?

Microangiopathic hemolytic anemia (MAHA) is a syndrome of traumatic intravascular hemolysis causing fragmentation of the RBCs that are seen on peripheral blood smear (schistocytes). It is not a specific diagnosis but suggests a limited differential diagnosis.

What is hereditary pyropoikilocytosis (HPP)?

Hereditary pyropoikilocytosis. Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by an abnormal sensitivity of red blood cells to heat and erythrocyte morphology similar to that seen in thermal burns or from prolonged exposure of a healthy patient’s blood sample to high ambient temperatures.

What is the history of pyropoikilocytosis?

Hereditary pyropoikilocytosis was originally described by Zarkowsky et al. (1975) as a distinct hemolytic anemia characterized by microspherocytosis, poikilocytosis, and an unusual thermal sensitivity of red cells.

What is the pathophysiology of homozygous acute promyelocytosis?

HPP has been associated with a defect of the erythrocyte membrane protein spectrin and with spectrin deficiency. It was characterized in 1975. It is considered a severe form of hereditary elliptocytosis. Mutations of the alphaspectrin gene causes this disease.

How is hereditary pyropoikilocytosis detected by the eosin-5-maleimide (EMA)-binding test?

Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins. King MJ, Jepson MA, Guest A, Mushens RInt J Lab Hematol2011 Apr;33(2):205-11.