Hemolytic Crisis as the Initial Presentation of Hereditary Spherocytosis Induced by Parvovirus B19 and Herpes Virus Infection in a Patient with the Thalassemia Trait: A Case Report

Cihan, Meriç Kaymak; Gökçe, Hafize; Oruç, Meral; Olcay, Lale

doi:10.5505/tjh.2012.96977

Cited by 3 publications

(2 citation statements)

References 5 publications

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“…HS can be classified as mild, moderate, moderately severe, and severe based on various clinical parameters such as hemoglobin (Hb) levels, reticulocyte count, bilirubin, peripheral smear, splenectomy [7], and transfusion [2]. Hemolytic crisis is most common in severe HS patients and presents with fever that may be triggered by viral infections [8]. Most patients are autosomal dominant for HS with a clear family history of the disease.…”

Section: Introductionmentioning

confidence: 99%

Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis

S.K.

Tang

et al. 2022

Applied Bionics and Biomechanics

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Hereditary spherocytosis (HS) is a chronic hemolytic disorder caused by inherited defects in the red blood cell membrane. This study discusses the treatment strategy for the decline in hemoglobin level in three HS probands with moderately severe or severe hemolysis and summarizes the appropriate laboratory tests that help improve clinical management of blood transfusion in HS patients. Three probands who were diagnosed with HS in our hospital and their family members were included in this study. Clinical data of the three families were reviewed to summarize their hematopoietic characteristics. DNA from all family members of the 3 HS probands was amplified by polymerase chain reaction (PCR) and sequenced by the Sanger method to assess genetic relation for HS. Based on the sequencing results, the type of mutated membrane protein in each proband was analyzed using the eosin-5 ′ -maleimide (EMA) binding test and sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE). The hemoglobin level was reduced in all 3 probands after different levels of infection. The fluorescence of EMA-labeled red blood cell (RBC) was decreased. DNA sequencing showed that His54Pro, Leu1858Val, and 6531-12C>T compound heterozygous mutations were present in the SPTA1 gene of patient I-1, Arg344Gln and c.609+86G>A heterozygous mutations were present in the SLC4A1 gene of patient II-1, and Leu2032Pro homozygous mutation was present in the SPTB gene of patient III-1. SDS-PAGE results demonstrated that the concentration of band 3 was reduced in II-1, whereas the levels of the corresponding mutant proteins in the other probands were unchanged. The family members of the respective patients presented mutations in major genes causing HS. The Leu2032Pro mutation identified in patient III-1 is a new missense mutation of the SPTB gene in the Chinese population that has never been reported in literature previously. The presence or absence of acute or chronic infections is a critical deciding factor for the treatment and clinical management of HS patient via blood transfusion. For patients with infections, hemoglobin concentration can be restored once the infection is controlled, thus obviating the need for proper infection control before blood transfusion.

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Section: Introductionmentioning

confidence: 99%

Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis

S.K.

Tang

et al. 2022

Applied Bionics and Biomechanics

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“…Combined defects of red cell membrane and/or metabolism are very rare, and the fact that carriership for a metabolic defect may be a modifier for the clinical expression of a membrane defect is still debated [ 32 , 33 ]; in particular, the copresence of beta-thalassemia trait seems to reduce the degree of haemolysis in patients with hereditary spherocytosis [ 34 – 37 ]. In the presented cases the clinical phenotype does not differ from the HX cases reported in literature ( Table 2 ), thus excluding a synergetic effect between HX and the concomitant disorders.…”

Section: Discussionmentioning

confidence: 99%

Hereditary Xerocytosis due to Mutations inPIEZO1Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families

Fermo

Vercellati

Marcello

et al. 2017

Case Reports in Hematology

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Hereditary xerocytosis (HX) is a rare disorder caused by defects of RBC permeability, associated with haemolytic anaemia of variable degree and iron overload. It is sometimes misdiagnosed as hereditary spherocytosis or other congenital haemolytic anaemia. Splenectomy is contraindicated due to increased risk of thromboembolic complications. We report the clinical, haematological, and molecular characteristics of four patients from two unrelated Italian families affected by HX, associated with beta-thalassemia trait and heterozygous pyruvate kinase deficiency, respectively. Two patients had been splenectomised and displayed thrombotic episodes. All patients had iron overload in the absence of transfusion, two of them requiring iron chelation. The diagnosis of HX was confirmed by LoRRca Osmoscan analysis showing a left-shifted curve. PIEZO1 gene sequencing revealed the presence of mutation p.E2496ELE, showing that this is one of the most frequent mutations in this disease. The concomitant defects did not aggravate the clinical phenotype; however, in one patient, the initial diagnosis of pyruvate kinase deficiency delayed the correct diagnosis of HX for many years and resulted in splenectomy followed by thrombotic complications. The study underlines the importance of a precise diagnosis in HX, particularly in view of splenectomy, and the need of a molecular confirmation of suspected RBC enzymopathy.

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Parameters of neutrophil functional activity in children with hereditary spherocytosis

Novikova,

Makeyeva,

Mitsura

2024

jour

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This study investigates the functional activity of peripheral blood neutrophils in children with hereditary spherocytosis − one of the most common forms of congenital hemolytic anemias. For the first time, a comprehensive examination of various aspects of neutrophil reactivity in this pathology was conducted, including their ability to form reactive oxygen species and neutrophil extracellular traps (NETosis). The results revealed significant changes in neutrophil functional activity in patients with hereditary spherocytosis outside of hemolytic crisis, particularly an increased capacity for reactive oxygen species formation and enhanced NETosis. Notably pronounced NETosis activation was observed in patients of the younger age group (up to 5 years). Correlations were identified between NETosis indicators and the number of erythrocytes and leukocytes in patients' peripheral blood. This study contributes significantly to understanding the relationship between erythrocyte pathology and neutrophil functional status, an aspect that had not been previously studied in detail in the context of hereditary spherocytosis.

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Hemolytic Crisis as the Initial Presentation of Hereditary Spherocytosis Induced by Parvovirus B19 and Herpes Virus Infection in a Patient with the Thalassemia Trait: A Case Report

Cited by 3 publications

References 5 publications

Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis

Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis

Hereditary Xerocytosis due to Mutations inPIEZO1Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families

Parameters of neutrophil functional activity in children with hereditary spherocytosis

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