Anemia case study Made by :Alaa duhair , Alaa alhoubi ,Shimaa Alshakhe. Under the supervision of : MS. Ibtisam Alaswad .

A 27-year-old woman presented with recurrent abdominal swelling, A 27-year-old woman presented with recurrent abdominal swelling, . She has had four units of blood transfusion in childhood; her last transfusion was 10 years prior to presentation. She also has recurrent yellowish discoloration of the eyes., mildly pale, moderately jaundiced and has a gnathopathy. The spleen was enlarged by 6cm but the liver was not palp large. Laboratory investigation shows a hematocrit of 0.27 (Hb 9g/dL), white blood cell count of 6.2x109/L, platelet count of 201x109/L, MCV of 75µm3 (80-97) reduced, MCHC of 37g/dl (31.5-35) increased. Peripheral blood smear showed a predominance of spherocytosis constituting over 70% of the red blood cells (Figure 1). The white cell and platelets are of normal morphology. Her genotype was AA. A high reticulocytes count of 6.5% was obtained. A direct ant globulin test was then performed which was negative but the osmotic fragility test was increased. was then made and the patient was counseled and placed on folic acid supplementation and a three monthly follow up visit.

Test Case result Normal range HCT 0.27% Hb 9 g/dl WBCs 6.2x109/L PLTs Men 39 – 49 % Women 33 - 43 % Hb 9 g/dl Men 13 . 6 - 17 . 2 g/dl Women 12 . 0 - 15 . 0 g/dl WBCs 6.2x109/L (4.5 to 11.0 × 109/L) PLTs 201x109/L 150-450 x109/L MCV 75µm3 (80-97) µm3 MCHC 37 g/dl (31.5-35) g/dl Reticulocyte count 6.5% 0 . 5 - 1 . 5

Hereditary Spherocytosis: Introduction : Hereditary Spherocytosis a type of inherited hemolytic anemia in which the red blood cells are sphere- shaped due to a defect of the cell membrane.

Hereditary Spherocytosis Autosomal dominant Defective or absent spectrin molecule Leads to loss of RBC membrane, leading to spherocytosis Decreased deformability of cell Increased osmotic fragility Extravascular hemolysis in spleen

Pathophysiology Four abnormalities in red cell membrane proteins have been identified and include : spectrin deficiency alone, combined spectrin and Ankyrin deficiency, band 3 deficiency, and protein 4.2 defects. Spectrin deficiency is the most common defect. expression. Each is associated with a variety of mutations that result in different protein abnormalities and varied clinical A deficiency in spectrin, Ankyrin, or protein 3 results in uncoupling in the vertical interactions of the lipid bilayer skeleton and the loss of membrane macrovesicles. The loss of membrane surface area without a proportional loss of cell volume causes sphering of the RBCs.

Defects in vertical stabilization of the phospholipid bilayer of the RBC membrane cause separation of the spectrin - phospholipid bilayer. Portions of the phospholipid bilayer form vesicles and are lost from the RBC surface resulting in decreased surface area and spherocytosis.

Functions of red cell membrane : Erythrocyte membrane that is normal in structure and function is essential to survival of red cell. Maintains stability and normal discoid shape of cell . Preserve cell deformability. Retain selective permeability.

Symptoms of Hereditary spherocytosis Anemia, jaundice, and splenomegaly are the clinical features of HS. -Abnormal shaped red cells -Anemia due to destruction of red blood cells Intermittent jaundice -Enlarged spleen Biliary obstruction. Anemia, reticulocytosis, and spherocytosis on peripheral blood smear examination provide strong hints to suggest the diagnosis of HS.

Laboratory Studies The classic laboratory features of HS include: Minimal anemia Reticulocytosis increased MCHC Spherocytosis on the peripheral blood smear, hyperbilirubinemia, Abnormal results on the Osmotic fragility test.

Osmotic fragility test Principle: When an erythrocyte is placed in a hypotonic sodium chloride-(Na CI) solution, a net influx of solvent (water) into the cell-will occur and the cell swilling the cell size reaches a certain point, the cell membrane will become leaky and hemoglobin will diffuse out (hemolysis). If the Na Cl solutions hypotonic enough, the cell will rupture » The degree of hemolysis can be measured by determining the absorbance of the supernatant using a spectrophotometer.

Treatment Supportive Care Folic Acid Supplementation Moderate to severe: 1mg/day . During pregnancy: 4-5mg/day Transfusion Erythropueitin 1000IU/Kg/Week. Splenectomy Moderate to Severe hemolysis.

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