Congenital Non-Spherocytic Hemolytic Anemia (CNSHA)
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LETTERS TO THE EDITOR Congenital Non-Spherocytic The pedigree showed that the mother’s Hemolytic Anemia (CNSHA) Due uncle also had similar illness and laboratory findings. He was investigated 15 years ago at to Pyrimidine 5’Nucleotidase 28 years of age and is doing well. Both the Deficiency parents were clinically and hematologically normal. No one was affected on the paternal side. Congenital non-spherocytic hemolytic A diagnosis of CNSHA was made. anemia (CNSHA) is a rare spectrum of Polychromatophilia and basophilic stippling autosomal recessive disorders due to occur in lead intoxication and P-5’-N deficiency of enzymes of glycolysis and RBC deficiency. Serum and urine lead levels were nucleotide metabolism. We report a family of not increased. An autohemolysis test showed three male members with CNSHA due to increased hemolysis corrected by glucose deficiency of pyrimidine 5’nucleotidase confirming defect inherent to RBCs. This (P-5’-N). clinched the diagnosis of P-5’-N deficiency in Two boys, 12- and 9-year-old siblings, the absence of lead poisoning. Enzyme born out of non-consanguineous marriage estimation was not done due to the presented with mild non-progressive jaundice nonavailability of the test. and mild pallor. There were no bleeding CNSHA due to altered erythrocyte manifestations or cholestasis. There was no metabolism are characterized by the absence of history of blood transfusion or medications. spherocytes and inclusion bodies, positive KF ring was absent. On examination, growth autohemolysis test and autosomal recessive and development were in the normal range inheritanc(1). Hemoglobin structure, heat with splenohepatomegaly. stability and synthesis will be normal. Acid Their investigation results were similar on hemolysis and immune hemolytic studies will repeated testing. Hb was 10 g/dL, WBCs and be normal. Among deficiency of pyruvate platelets were normal. Reticulocyte count was kinase and enzymes of glycolysis and between 5 and 10 percent. Peripheral smear erythrocyte nucleotide metabolism, basophilic showed hemolytic picture with moderate stippling is seen in P-5’-N deficiency. anisocytosis, hypochromia, microcytosis and P-5’-N deficiency is an autosomal basophilic stippling with a few polychromato- recessive hemolytic anemia of moderate philic cells and normoblasts. Spherocytes and severity(2). Heterozygotes have no clinical Heinz body were absent. manifestation, but exhibit 50% reduction in Serum bilirubin was in the range 2 to enzyme activity. Since this enzyme is present 5 mg/dL. Osmotic fragility showed mild in brain, severe deficiency can lead to mental increase in fragility (Test 0.5-0.28: Control retardation. Reticulocyte maturation requires 0.44-0.34). Hb electrophoresis was normal. disposition of intra erythrocytic RNA, which is HbF was <2%, G6PD enzyme level was no longer, needed for protein synthesis. normal. Direct Coomb’s test and sickling test Pyrimidine nucleotides formed by the action of were negative. HBSAg and HCV and ANA ribonucleases on the ribosomal RNA is hydro- were negative. USG abdomen showed lyzed by P-5’-N enzyme. In its deficiency, splenohepatomegaly. substrates accumulate inside the cell leading to INDIAN PEDIATRICS 184 VOLUME 43__FEBRUARY 17, 2006 LETTERS TO THE EDITOR hemolysis(3-5). Magnetic resonance imaging 2. Fujii H, Miva S. Recent progress in the or UV spectroscopy for cellular extracts and molecular genetic analysis of erythro- enzyme assay are confirmatory. No specific enzmopathy. Am J Hematol 1990; 34: 301-304. treatment is available. 3. Valentine WN, Fink K, Paglia DE, Harris SR, K.R. Aparna, Adams WS. Hereditary hemolytic anemia with K.E. Elizabeth, human erythrocyte pyrimidine 5’nucleotidase deficiency. Clinic Invest 1974; 54: 866-868. Department of Pediatrics, SAT Hospital, Government Medical College, 4. Miwa S, Nakashima K, Fujii HE, Matsumoto Thiruvananthapuram 695 011, India. M, Namura K. Three cases of hereditary E-mail: [email protected] hemolytic anemia with pyrimidine 5’ nucleotidase deficiency in a Japanese family. REFERENCES Human Genet 1977; 37: 361-364. 1. William C. Mentzer. Pyruvate kinase 5. Beutler E, Baranko PV, Feagle RJ, Matsumoto deficiency and disorders of glycolysis. In: F, Miro-Quesdada M, selby G, et al. Hemolytic Nathan DG and Orkin SH, editors. Hematology anemia due to pyrimidine 5’nucleotidase of Inmncy and Childhood. 5th edn. USA W.B. deficiency: Report of 8 cases in six families. Saunder’s Company; 1998; p. 689-692. Blood 1980; 56: 251-255. Polio Declining but AFP on the measles vaccines and GBS (Guillain Barre Rise Syndrome)(2). Several studies have been conducted on GBS or its relation with nation wide oral polio The number of polio cases in the country vaccination. Results have demonstrated a has shown a decline but there has been a sharp temporal association between polio virus rise in AFP (Acute Flaccid Paralysis) cases as infection caused by either wild virus or live is evident from non polio AFP rates (Table 1) attenuated vaccine, and an episode of (1). A sensitive surveillance system detects a increased occurrence of GBS. However, rate of 1 per 1 lakh children less than 15 years old. Non polio AFP rate in India has exceeded 5 while that in Bihar and UP have TABLE I–Trend of Non-polio AFP Rate in India. touched figures of 10.9 and 11.2 Year Non-polio AFP rate respectively(1). Values exceeding one need (per 1 lakh children < 15 years ) introspection and careful evaluation. 2001 1.88 Prodromal infections or vaccines in 2002 1.87 several reports have been found to be 2003 1.97 temporally followed by a new onset of autoimmune diseases. This has been accepted 2004 3.11 for diphtheria and tetanus toxoid, polio and 2005 5.06 INDIAN PEDIATRICS 185 VOLUME 43__FEBRUARY 17, 2006.