DrJoe Paul ,DrPraveena,DrNavya George DrSuchithra Sivadas, Dr.Rema ,Dr.C. Jayakumar
3 month old male child, late preterm 3rd child of non consanginous marriage with normal growth and development, immunized for age and who was also on follow up for anemia was brought with complaints of increasing pallor.
On day 2 of life child had Non A Non Haemolytic anaemia and jaundice and phototherapy was given for 2 days. Routine lab done found low hemoglobin (8.2 gm/dl) with PS showing dimorphic anaemia and was advised to be kept on followup. Repeat Hb done after 10 days was 6.7gm/dl and child was given PRBC transfusion following which Hb improved to 17gm/dl. Thereafter again child developed drop in Hb to 7gm/dl. He was brought to AIMS for detailed evaluation and treatment.
Differentials considered were:
-Physiological anemia of infancy
-Hemolytic anemia
-Hb production disorders
Investigations:
Hb-7 gm/dl, Serum Iron-195.2 mcg/dl, Serum Ferritin- 487.10 ng/ml, TIBC- 188.7 mcg/dl
Cyanocobalamin- 468.8 pg/ml, Retic count- 0.488%
Serum creatinine ,LFT ,Thyroid panel. Normal
Peripheral blood smear: Normocytic anemia with reticulocytopenia ( attributed to prior transfusion).
Stool OB- positive turned negative once iron therapy was stopped
On examination child had pallor with stable vitals.No skeletal malformations were noted for the child Systemic examination was unremarkable. USG Abdomen was done which was normal. HPLC was normal. In view of persisting anemia, bone marrow aspiration was performed, which showed particulate, cellular marrow with marked paucity of erythroids, normal myelopoiesis and megakaryopoiesis , along with 50% lymphocytes. Bone marrow biopsy showed Suboptimal marrow cores with one marrow space of cellularity showing predominantly lymphocytes,myeloids and a few scattered erythroids. . The possibility of pure red cell aplasia was considered. Whole exome sequencing and membranenopathy and enzymopathy advised could not be done due to financial constraints
Child was started on 2mg mg per kg and subsequently Hb Improved and now on 1mg per kg maintains normal Haemoglobin
All non National Immunization vaccine was also advised and direction to check lipids,GRBS and BP monitoring
Extra intake of calcium ,potassium and restriction of Salt ,sugar and saturated fatty acid was also advised
Pure red cell aplasia can either be inherited or acquired.
1.Congenital- Diamond Blackfan syndrome
- Acquired PRCA
Other causes usually not in young children are
a) Autoimmune/ Collagen disorders- SLE, RA, IBD - Lymphoproliferative disease-CLL, Hodgkins and NonHodgkins lymphoma, Multiple myeloma
- ABO incompatable stem cell transplant
- Solid tumors –Thymoma, Breast, gastric, lung, thyroid
- Viruses- Parvovirus B19, HIV, EBV, CMV
- Bacterial infections- Grp C Streptococcus, TB
- Pregnancy
- Riboflavin deficiency
Evaluation- isolated anemia and reticulocytopenia in the presence of normal WBC and platelet are suggestive of PRCA. Further evaluation is pursued to determine the degree of anemia and etiology of PRCA and rule out other causes.
Untreated inherited PRCA results in severe anemia, which leads to congestive heart failure and death. Malignancy is a potential threatinthe long run . Glucocorticoid use, blood transfusion and allogenic stem cell transplant are mainstay of treatment in children.
Take home message- All anemias are not due to Iron deficiency and should be evaluated properly and managed appropriately.