Case Presentation: Hereditary Ovalocytosis

Interesting Case Presentation Dr. Shubhra Prakash Paul MU 10 Dhaka Shishu Hospital

Case Summary Awal , a 5 years old young male baby ,2nd issue of his non consanguinous parents , from a poor socioeconomic background, hailing from Norshingdi was admitted to Dhaka Shishu Hospital with the complaints of progressive gradual pallor and abdominal distension for 3 months and yellow coloration of eyes and facial dysmorphism for same duration.

Contd. …….. According to informant mother , he was delivered at term at home without any antenatal or postnatal complication including jaundice. There is no history of same kind of illness in his family members and other sibling. There is no stigmata of chronic diseases like malnutrition of chronic renal failure.

Contd. ……….. For the above mentioned complaints he was visited by a qualified physician and several investigations done. There he received one unit of blood transfusion. He had no history of receiving blood transfusion before this.

Contd. ….. At the time of admission general examination revealed Awal was ill-looking , moderately pale, Mildly icteric. There was facial dysmorphism including mild frontal bossing, malar prominence. Vital signs were within normal limit. There was no cyanosis, clubbing, oedema , koilonychia.

Contd………….. Anthropometry of Awal revealed is (Height 93cm, Weight 13kg) W/A (-)2.5 SD, H/A (-)3.5SD . Abdominal examination revealed there was hepatomegaly (3cm in Rt. MCL ) as well as huge splenomegaly (10cm Along it’s long axis). there was no bony tenderness or bleeding manifestation. Other systemic examination revealed no abnormality.

Provisional Diagnosis

Hemolytic anemia probably due to Thalassemia

Investigations On 11/10/08 CBC 1. Hb% 8.1 gm/dl 2. ESR 70mm in 1st hour 3. Total Count of WBC - 8700/Cumm 4. Diff.Count of WBC N – 57% L – 32% M –07% E –04% 5.Platelet count 200000/cumm

Investigation On 03/12/08 A.CBC with film 1. Hb – 7.5gm/dl 2. Total Count of WBC - 13,500/Cumm 3. Diff. Count of WBC N – 66% L – 27% M –01% E –06% 4. Platelet count 2,10,000/cumm 5. Reticulocytes count - 08% 6. Nucleated RBC 01/100 Leukocytes

Investigations contd. …. • Blood film shows.. RBC --- Anisocytic anisochromic RBC.Significant number of Ovalocytes and spherocytes are present. Few nucleated RBCs. Features suggestive of ?Hereditary ovalocytosis ?Hereditary spherocytosis As ovalocytes are more prominent than spherocytes then hereditary ovalocytosis is to be considered

Pictorial (Spherocytes)

Pictorial (Ovalocytosis/Elliptocytosis)

Pictorial (macro-ovalocytes)

Investigations contd. …. Hemoglobin Electrophoresis HbA Hb F HbA2

94.6% 2.6% 2.8%

Comment: Normal hemoglobin electrophoresis

Investigations contd. • Osmotic Fragility Test ----------Increased • Serum Bilirubin Total 3.9 mg/dl Indirect 3.2 mg/dl Direct 0.7 mg/dl • Chest X ray P/A view shows.. Cardiomegaly • X ray Skull both A/P and Lateral view … normal

Investigation contd. …….. USG of Whole abdomen shows Hepato-Splenomegaly No evidence of cholelithiasis.

Final Diagnosis

Hemolytic Anemia due to Hereditary Ovalocytosis

Treatment A. Supportive 1. Counseling of parents 2. Normal Diet 3. Blood transfusion to combat anemia 4. Folic acid suplimentation (1mg daily) B. Specific Splenectomy after complettion of 5 years of age and after proper protection from Capsulated organisms.

Prognosis Those with hereditary ovalocytosis have a good prognosis, only those with very severe disease have a shortened life expectancy.

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