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| IMAGE IN HEMATOLOGY |
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| Year : 2015 | Volume
: 6
| Issue : 1 | Page : 39 |
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Hereditary pyropoikilocytosis
Muneer Hassan Albagshi
Department of Pediatric Hematology, Maternity and Children Hospital, Director of Hereditary Blood Diseases Center, AL Ahsa, Saudi Arabia
| Date of Web Publication | 15-Apr-2015 |
Correspondence Address:
Muneer Hassan Albagshi
Maternity and Children Hospital, Director of Hereditary Blood Diseases Center, AL Ahsa
Saudi Arabia
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/1658-5127.155191
How to cite this article:
Albagshi MH. Hereditary pyropoikilocytosis. J Appl Hematol 2015;6:39 |
A 3-day-old boy neonate referred to the hospital because of indirect hyperbilirubinemia, which was treated with phototherapy.
His complete blood count showed the following: Red blood cell, 5.89 × 10 12 L, Hb, 16.7 g/L; hematocrit, 0.49.91 L/L; mean corpuscular volume, 86.3 fL; mean corpuscular hemoglobin (MCH), 25.9 pg; MCH concentration, 303 g/L; red cell distribution width, 20.8%; platelet, 540 × 10 9 /L; mean platelet volume, 9.1 fL. white blood cell (WBC), 11.55 × 10 9 ; A differential WBC count revealed the following: Neutrophils, 27%, lymphocytes 64%, monocytes 6%, eosinophils 2%, atypical lymphocytes 2%. Both baby and mother have A positive blood group, and direct antiglobulin test was negative. Total bilirubin 25 mg/dl and indirect bilirubin 24 mg/dl.
A morphology assessment of his blood sample peripheral blood with leishman stain [Figure 1] shows marked aniso-poikilocytosis, microcytosis, hypochromia, elliptocytes, and fragmented red cells indicating the diagnosis of hereditary pyropoikilocytosis.
Membrane disorders are characterized by defective horizontal interactions between membrane proteins. [1],[2],[3] The differential diagnosis is Hereditary elliptocytosis in the severe form.
The patients of such condition need to be followed also for a possible need for red transfusions in the first few years of life.
| References | |  |
| 1. | Ogburn PL Jr, Ramin KD, Danilenko-Dixon D, Fairbanks VF, Ramsey PS. In utero erythrocyte transfusion for fetal xerocytosis associated with severe anemia and non-immune hydrops fetalis. Am J Obstet Gynecol 2001;185:238-9.  |
| 2. | del Giudice EM, Perrotta S, Nobili B, Specchia C, d'Urzo G, Iolascon A. Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood 1999;94:2259-62. |
| 3. | Delhommeau F, Cynober T, Schischmanoff PO, Rohrlich P, Delaunay J, Mohandas N, et al. Natural history of hereditary spherocytosis during the first year of life. Blood 2000;95:393-7. |
[Figure 1]
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