Hemolytic erythrocytosis: an amalgamated phenotype from coinherited Chuvash polycythemia and G6PD Kerala-Kalyan with acq
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LETTER TO THE EDITOR
Hemolytic erythrocytosis: an amalgamated phenotype from coinherited Chuvash polycythemia and G6PD Kerala-Kalyan with acquired transient stomatocytosis Manu Jamwal 1 & Nabhajit Mallik 1 & Arun Vijayalakshmi Aravindan 2 & Arihant Jain 2 & Prashant Sharma 1 & Pankaj Malhotra 2 & Reena Das 1 Received: 26 May 2020 / Accepted: 3 October 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Dear Editor, The paradoxical combination of absolute erythrocytosis with hemolysis can occur with few high-affinity hemoglobin variants and rarely with polycythemia vera (PV) [1, 2]. Familial (Chuvash) erythrocytosis-2 (OMIM #263400), a rare autosomal recessive disorder due to VHL: c.598C>T (p.Arg200Trp), is not associated with hemolysis [3]. Stomatocytosis is an acquired, artifactual, or rarely inherited finding wherein erythrocytes display a slit-like central pallor; inherited stomatocytosis causes hemolytic anemia/compensated hemolysis with jaundice [4]. We report an intriguing case of Chuvash polycythemia, transient stomatocytosis with compensated hemolysis where targeted next-generation sequencing (NGS) revealed unusual genotypes. A 32-year-old male with familial erythrocytosis (highest recorded hemoglobin 242 g/L, underwent four phlebotomies until date) was found to have massive splenomegaly (19.2 cm span), unconjugated hyperbilirubinemia, and bilateral grade III clubbing. History revealed that he was incidentally diagnosed to have erythrocytosis at the age of 15 years. He had three hospital admissions and had generalized erythema. He also had episodes of jaundice suggestive of hemolysis and one episode of hematemesis. He was the sixth-born among eight siblings; three older siblings had died young, and familial erythrocytosis was noted for the eldest sibling (died at 40 years). One of the siblings had a history of toe infarction which required amputation. Sanger sequencing for targeted regions
* Reena Das [email protected]; [email protected] 1
Department of Hematology, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh 160012, India
2
Department of Internal Medicine, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India
implicated with familial erythrocytosis [5] revealed that the patient was homozygous for the genetic variant leading to Chuvash polycythemia NM_000551.3(VHL): c.598C>T (p.Arg200Trp) and his parents were heterozygotes. Splenoportal axis Doppler ultrasound revealed non-cirrhotic portal fibrosis. Blood counts revealed hemoglobin 188 g/L, hematocrit 65.1%, red blood cell count 6.95 × 1012/L, MCV 93.7 fl, MCH 27 pg, MCHC 28.8 g%, and RDW-CV 22.9% with normal platelet and leukocyte counts. Serial peripheral smear evaluation reveals stomatocytosis (Fig. 1a) with reticulocytosis (6.0%) (Fig. 1b). Tests for common causes of hemolytic anemia including the methemoglobin reduction test for G6PD deficiency screening were negative. Because of apparent compensated hemolysis with stomatocytosis, targeted NGS using a custo
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