Article Text

USEFULNESS AND LIMITS OF NEONATAL HAEMATOLOGY ALGORITHMS IN THE DIAGNOSIS OF RARE DISEASES
  1. F Schettini1,
  2. F G Russo1,
  3. A Dileo1,
  4. M Quercia1,
  5. N Laforgia1
  1. 1Dipto. G.O.N. Sez. Neonatologia, Università Di Bari, Bari, Italy

Abstract

Objective To show the validity of neonatal haematology algorithms1 in newborns.

Methods We studied 2 patients affected by anemia with a clinical display of their rare disease which was atypical and confounding because of concomitant diseases and complications.

Results Case 1: A newborn at 8 hours with: Hct 38%, MCV 85 fl, Ret 326000/mmc, indirect bilirubin 11.5 g/dL, anyspoichilocytosis and schystocytosis, LDH 144 U/L, pathological Pink Test; received phototherapy for 108 hours. At one week received packed red cells and the spleen was 3 cm below coastal margins. He received EPO for 6 months but persisting anemia, reticulocytosis, hyperbilirubinemia and decreased MCV made us think of a red cell membrane defect hemolytic anemia. The lack of response to EPO and further investigations made us consider rarer forms. Molecular evaluation showed a reduced glycosilation of band 3 in the membrane proteins as in Congenital Diserithropoietic Anemia II, thus the source of hyperbiluribenemia was in the reticuloendothelial system where elements other than heritrocyte hemoglobin (unused heme, mioglobin and other liver enzymes containing heme) accumulated. Case 2: A newborn at birth had Hb 4.7 g/dL, MCV 116 fl, 108000 reticulocyte/mmc aniso-schistocytosis. Following the algorithm BDA was diagnosed, bone marrow puncture was performed showing heritroblastopenia and molecular analysis of RDS 19 gene confirmed the diagnosis.

Conclusions Although algorithms are the first step in the diagnosis, bone marrow and cell culture examinations, together with molecular investigations, are required.

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