Late Emergence of Polycythemia in a Case of Hb Chandigarh [β94(FG1)Asp→Gly]

Dash, Sumitra; Das, Reena

doi:10.1081/hem-120040311

Cited by 12 publications

(7 citation statements)

References 3 publications

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“…Therefore, it is possible that his cardiovascular risk was further raised by the increased Ht level caused by secondary polycythemia. In addition, although we could not confirm the long-term variation of the Ht level in the present case, secondary polycythemia may emerge or progress later in life in patients with certain high oxygen affinity Hb variants and such patients may be at a higher risk of thrombotic complications as they age (11).…”

Section: Discussioncontrasting

confidence: 45%

A Newly Characterized Hemoglobin Variant with a High Oxygen Affinity, Hb Fuchu-II, Presenting with Acute Myocardial Infarction

et al. 2016

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A 65-year-old Japanese man presented with acute myocardial infarction (AMI) and polycythemia. Biochemical studies of the patient's hemoglobin (Hb) and the sequencing of his globin genes revealed that the polycythemia was secondary to a high oxygen affinity Hb variant, Hb Fuchu-II. Hb variants with high oxygen affinity can be an additional thrombotic risk factor in older patients and/or those with other risk factors. The patient was diagnosed with hemoglobinopathy after the development of AMI and exemplifies the importance of recognizing such conditions and of taking appropriate prophylactic interventions.

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Section: Discussioncontrasting

confidence: 45%

A Newly Characterized Hemoglobin Variant with a High Oxygen Affinity, Hb Fuchu-II, Presenting with Acute Myocardial Infarction

et al. 2016

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“…The patient presented 15 years later with jaundice and a hemoglobin level of 183 g/L. Two other high oxygen affinity variants having substitution in the same position are also described in the literature, namely Hb Barcelona [β 94(FG1)Asp→His] and Hb Bunbury [β 94(FG1)Asp→Asn] 20 . In our study of 18 North Indian CE patients, 3 had high oxygen affinity hemoglobins—1 having a heterozygous Hb McKees Rocks HBB :c.438T>A (p.Tyr146*), and 2 brothers having Hb Rainier HBB :c.437A>G (p.Tyr146Cys) 21 …”

Section: Secondary Congenital Erythrocytosismentioning

confidence: 86%

Congenital erythrocytosis

Mallik

Das

Malhotra

et al. 2021

European J of Haematology

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Erythrocytosis, or increased red cell mass, may be labeled as primary or secondary, depending on whether the molecular defect is intrinsic to the red blood cells/their precursors or extrinsic to them, the latter being typically associated with elevated erythropoietin (EPO) levels. Inherited/congenital erythrocytosis (CE) of both primary and secondary types is increasingly recognized as the cause in many patients in whom acquired, especially neoplastic causes have been excluded. During the past two decades, the underlying molecular mechanisms of CE are increasingly getting unraveled. Gain‐in‐function mutations in the erythropoietin receptor gene were among the first to be characterized in a disorder termed primary familial and congenital polycythemia. Another set of mutations affect the components of the oxygen‐sensing pathway. Under normoxic conditions, the hypoxia‐inducible factor (HIF), upon hydroxylation by the prolyl‐4‐hydroxylase domain protein 2 (PHD2) enzyme, is degraded by the von Hippel‐Lindau protein. In hypoxic conditions, failure of prolyl hydroxylation leads to stabilization of HIF and activation of the EPO gene. CE has been found to be caused by loss‐of‐function mutations in VHL and PHD2/EGLN1 as well as gain‐of‐function mutations in HIF‐2α (EPAS1), all resulting in constitutive activation of EPO signaling. Apart from these, globin gene mutations leading to formation of high oxygen affinity hemoglobins also cause CE. Rarely, bisphosphoglycerate mutate mutations, affecting the 2,3‐bisphosphoglycerate levels, can increase the oxygen affinity of hemoglobin and cause CE. This narrative review examines the current mutational spectrum of CE and the distinctive pathogenetic mechanisms that give rise to this increasingly recognized condition in various parts of the world.

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“…Erythrocytosis causing increased blood viscosity can lead to thromboembolic complications, especially in elderly individuals with haemoglobinopathy [11]. Recent investigations suggest that preoperative anaemia increases the risk of postoperative mortality [12].…”

Section: Discussionmentioning

confidence: 99%

Anaesthesia in a patient with subarachanoidal haemorrhage and high oxygen affinity haemoglobinopathy (HB york): case report

et al. 2012

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BackgroundApproximately 90 haemoglobinopathies have been identified that result in abnormally high oxygen affinity. One of these is haemoglobinopathy York (HbY), first described in 1976. HbY causes an extreme leftward shift of the oxygen dissociation curve with the P50 value changing to 12.5 - 15.5 mmHg (normal value 26.7 mmHg), indicating that approximately half of the haemoglobin is not available as oxygen carrier. Patients with haemoglobinopathies with increased oxygen affinity could suffer from the risk developing ischaemic complications due to a lack of functional oxygen carriers. This is, to best of our knowledge, the first case report on a patient with HbY published in connection with anesthesia.Case PresentationA 42-year-old female with a severe headache and Glasgow coma scale (GCS) of 15 was admitted to the neurosurgical intensive care unit with a ruptured, right sided ICA aneurysm with consecutive subarachnoid haemorrhage [Fisher III, World Federation of Neurosurgical Societies (WFNS) I)]. The medical history of the patient included an erythrocytosis (Hb 17.5 g/dl) on the base of a high-oxygen-affinity haemoglobinopathy, called Hb York (HbY). With no time available to take special preoperative precautions, rapid blood loss occurred during the first attempt to clip the aneurysm. General transfusion procedures, according to the guidelines based on haemoglobin and haematocrit values, could not be applied due to the uncertainty in the oxygen carrier reduction. To maintain tissue oxygen supply, clinical indicators of ischaemia were instead utilized to gauge the appropriate required blood products, crystalloids and colloids replacements. Despite this, the patient survived the neurosurgical intervention without any neurological deficit.ConclusionsFamily members of patients with HbY (and other haemoglobinopathies with increased oxygen affinity) should undergo clinical assessment, particularly if they are polycythaemic. If the diagnosis of HbY is confirmed, they should carry an "emergency anaesthesiology card" in order to avert perioperative risks arising from their "hidden" anemia.

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Late Emergence of Polycythemia in a Case of Hb Chandigarh [β94(FG1)Asp→Gly]

Cited by 12 publications

References 3 publications

A Newly Characterized Hemoglobin Variant with a High Oxygen Affinity, Hb Fuchu-II, Presenting with Acute Myocardial Infarction

A Newly Characterized Hemoglobin Variant with a High Oxygen Affinity, Hb Fuchu-II, Presenting with Acute Myocardial Infarction

Congenital erythrocytosis

Anaesthesia in a patient with subarachanoidal haemorrhage and high oxygen affinity haemoglobinopathy (HB york): case report

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