Question

Create a case study based on Hereditary Sherocytosis. Include signs and symptoms, laboratory findings (MRI, lab values: urinalysis and blood, EKG, etc) disease etiology, and treatments. 500 words

Answer 1

Heritaroty xerocytosis
It is a rare and autosomal congenital hemolytic disoder. It is characterized by an abnormality in red blood cells membrane and high permeability and more potassium efflux than sodium.
Signs and symptoms
Fatigue, jaundice, pallor, dark color urine and splenomegaly and cholelithiasis.
A family history of anemia, splenectomy, jaundice, gallbladder disease, neonatal jaundice, hyperkalemia, high iron level, the thromboembolic disease can find the present problem.
Lab tests:
Hemoglobin will be below 11 g/dl it indicates HX anemia
Mean cell volumes(MCV) and Mean corpuscular hemoglobin concentration(MCHC) will be elevated more than 36g/dl.
Liver MRI reveal elevated iron overload
Serum ferritin level will be high
there will be elevated total bilirubin level, lactate dehydrogenase(LD) and reticulocyte count
Check ECG for any abnormality due to high potassium levels.
Urine analysis reveals dark colored urine.
The blood smear shows less than 10% stomatocytes
Etiology:
HX caused by defects of RBC permeability, hemolytic anemia, and high iron concentration. There are less monovalent cations like K+ and Na+ from RBCs. There is decreased intraerythrocytic K+ and total cations content not adequately proportional for sodium and water results in dehydrated erythrocytes. Genetically abnormal by mutation with PIEZOI caused by potassium channel.
Treatment:
Phototherapy will be helpful to reduce the bilirubin level.
Blood transfusion for anemia and exchange transfusion for hyperbilirubinemia.