Diagnosis?
GENERAL DATA: 27 year old female, single, saleslady CHIEF COMPLAINT: Recurrent yellowish discoloration of the eyes HISTORY OF PRESENT ILLNESS: Present condition started 10 years PTC as she presented with recurrent abdominal swelling, stunted growth relatively to her siblings and age groups. She has had four units of blood transfusion in childhood; her last transfusion was 5 years prior to presentation. She also has recurrent yellowish discoloration of the eyes. PAST MEDICAL HISTORY: No family history of sickle cell disease PAST SURGICAL HISTORY: Unremarkable PHYSICAL EXAMINATION: General survey: young lady, with a small and short stature mildly pale, moderately jaundiced and has a gnathopathy. The spleen was enlarged by 6cm below the right costal margin, the liver is moderately enlarged. DIAGNOSTICS: Laboratory investigation shows a haematocrit 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. A high reticulocytes count of 6.5% was obtained. A direct antiglobulin test was then performed which was negative but the osmotic fragility test was increased. Chief Complaints Recurrent yellowish discolouration of the eye.
Hereditary spherocytosis. People with this condition typically experience a shortage of red blood cells (anemia ), yellowing of the eyes and skin (jaundice), and an enlarged spleen.
This patient appears to have some sort of hemolysis ongoing as evident from the retic count, jaundice however what is putting me off is the low MCV (? concomitant iron deficiency). Osmotic fragility test is classically seen in spherocytosis which is a potential cause in this patient, but the test by itself is neither sensitive nor specific. I would recommend getting a very detailed family history of jaundice, anemia, and the need for blood transfusions from the family. A peripheral smear will be extremely useful in narrowing further workup and the diagnosis
Pt must be evaluated by hematologist/md medicine Possibility of recurrent hemolytic anaemia Hemoglobinopathy Thalassemia, sickle cell anaemia , secondary hemolytic anaemia Peripheral smear, coombs test, bone marrow examination If required Hb electrophoresis
History of BT in past Chronically anaemic Hematocrait is very low as well as reduced mcv and increased reticulocyte count All possibilities of SICKLE CELL ANAEMIA Likely acquired
It might be a case of congenital dyserythropoitic anemia.Bone marrow study and cytogenit study to be done.Serum iron profile to be done
Autoimmune haemolytic anaemia or Hereditary spherocytosis with iron deficiency anaemia..
Jaundice maybe
Hereditary spherocytosis. People with this condition typically experience a shortage of red blood cells (anemia ), yellowing of the eyes and skin (jaundice), and an enlarged spleen.
Sickle cell anemia
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