(LDH = lactate dehydrogenase; MCV = mean cell volume; MCHC = mean corpuscular haemoglobin concentration; Hb = haemoglobin; HS = hereditary spherocytosis; HE = hereditary elliptocytosis; HPP = hereditary pyropoikilocytosis
; SAO = South East-Asian ovalocytosis; HSt = hereditary stomatocytosis; PCR = polymerase chain reaction; EMA = eosin-5'-maleimide; G6PD = glucose-6-phosphate dehydrogenase.)
This is true of hereditary elliptocytosis, hereditary pyropoikilocytosis
and Southeast Asian ovalocytosis, a distinctive type of inherited haemolytic anaemia that is common in some parts of Southeast Asia.
The family history included a father and sister with similar symptoms of anemia, both of which had been diagnosed with hereditary pyropoikilocytosis. Due to the patient's family history and symptoms indicating a possible hematologic problem, a blood draw was performed.
A diagnosis of hereditary pyropoikilocytosis (HPP) was rendered based on laboratory studies, family history, erythrocyte osmotic fragility testing, and erythrocyte morphology.
Effect of heat on the circular dichroism of spectrin in hereditary pyropoikilocytosis. J Clin Invest.
Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. Blood.
Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. Haematologica.
Hereditary spherocytosis RBC spectrin RBC ankyrin Hereditary elliptocytosis RBC spectrin Hereditary pyropoikilocytosis
RBC spectrin Hemolytic anemia - Glucose- G-6-PD 6-phosphate dehydrogenase deficiency Hereditary nonspherocytic PDH hemolytic anemia - Pyruvate kinase deficiency Porphyrias Various genes encoding enzymes of the heme biosynthesis pathway