Heme Oxygenase 1 Deficiency

Last update 08 May 2025

Basic Info

Synonyms

HEME OXYGENASE 1 DEFICIENCY, HMOX1D, HO-1 (heme oxygenase-1) deficiency

+ [5]

Introduction

A rare inborn error of metabolism characterised by congenital asplenia and childhood or adolescent onset of generalised inflammation, persistent intravascular haemolysis and anaemia, severe endothelial injury with abnormal coagulation, bleeding diathesis and nephropathy. Additional reported manifestations include growth retardation, mild facial dysmorphism and hepatomegaly.

Clinical Trials associated with Heme Oxygenase 1 Deficiency

NCT05950555

/ CompletedNot ApplicableIIT

A Randomized, Double-blind Comparison of the Effects of Dexmedetomidine and Ketamine on Oxidative Stress Markers in Patients Under Combined Spinal-epidural Anesthesia Under Lower Extremity Surgery

The primary aim of this study was to compare the effects of dexmedetomidine and ketamine, which are administered intravenously during surgery, on the levels of malondialdehyde, an antioxidant, anti-inflammatory enzyme, heme oxygenase-1 enzyme levels and C-reactive protein levels in patients who underwent lower extremity surgery under combined spinal epidural anesthesia.

Start Date30 Dec 2021

Sponsor / Collaborator

Ataturk University

100 Clinical Results associated with Heme Oxygenase 1 Deficiency

100 Translational Medicine associated with Heme Oxygenase 1 Deficiency

0 Patents (Medical) associated with Heme Oxygenase 1 Deficiency

Literatures (Medical) associated with Heme Oxygenase 1 Deficiency

10 Dec 2024·Blood Advances

Peripheral human red blood cell development in human immune system mouse model with heme oxygenase-1 deficiency

Article

Author: Macdonald, Lynn ; Ni, Min ; Lim, Weikeat ; Porter, Brace ; Adler, Christina ; Zhong, Jun ; Trageser, Kyle ; Kim, Hyunjin ; Murphy, Andrew ; Bigdelou, Parnian ; Wei, Yi ; Atwal, Gurinder S. ; Tu, Naxin ; Ajithdoss, Dharani ; Kulshreshtha, Vikas ; Frleta, Davor ; Patel, Aditi Khatri

AbstractA challenge for human immune system (HIS) mouse models has been the lack of human red blood cell (hRBC) survival after engraftment of these immune-deficient mice with human CD34+ hematopoietic stem cells (HSCs). This limits the use of HIS models for preclinical testing of targets directed at hRBC-related diseases. Although human white blood cells can develop in the peripheral blood of mice engrafted with human HSCs, peripheral hRBCs are quickly phagocytosed by murine macrophages upon egress from the bone marrow. Genetic ablation of murine myeloid cells results in severe pathology in resulting mice, rendering such an approach to increase hRBC survival in HIS mice impractical. Heme oxygenase-1 (HMOX-1)–deficient mice have reduced macrophages due to toxic buildup of intracellular heme upon engulfment of RBCs, but do not have an overall loss of myeloid cells. We took advantage of this observation and generated HMOX-1–/– mice on a humanized M-CSF/SIRPα/CD47 Rag2–/– IL-2Rγ–/– background. These mice have reduced murine macrophages but comparable levels of murine myeloid cells to HMOX-1+/+ control mice in the same background. Injected hRBCs survive longer in HMOX-1–/– mice than in HMOX-1+/+ controls. Additionally, upon human HSC engraftment, hRBCs can be observed in the peripheral blood of HMOX-1–/– humanized M-CSF/SIRPα/CD47 Rag2–/– IL-2Rγ–/– mice, and hRBC levels can be increased by treatment with human erythropoietin. Given that hRBC are present in the peripheral blood of engrafted HMOX-1–/– mice, these mice have the potential to be used for hematologic disease modeling, and for testing therapeutic treatments for hRBC diseases in vivo.

01 Jun 2024·Clinical Case Reports

A rare case of heme oxygenase deficiency: A case report and literature review

Author: Alla, Deekshitha ; Pillai, Sanjay ; Shajahan, Waseem Abrar ; Shah, Dhruv J. ; Agarwal, Pahel ; Alla, Sai Santhosha Mrudula ; Ramsundar, Rakshna ; Ravulapalli, Madhavi ; Bayeh, Ruth G. ; Repalle, Uday Kumar ; Suhani, Fnu ; Bora, Satya

Key Clinical MessageHeme oxygenase deficiency, a rare condition disrupting heme metabolism, has only nine reported cases. We present a 3‐year‐old boy with dysmorphic facies, asplenia, and normal bilirubin levels despite ongoing hemolysis. Blood transfusions sustained hemoglobin while IV steroids managed inflammation.

01 Mar 2024·Molecular Genetics and Metabolism Reports

Clinical and molecular analysis of a novel variant in heme oxygenase-1 deficiency: Unraveling its role in inflammation, heme metabolism, and pulmonary phenotype

Article

Author: Berendes, Lea-Sophie ; Varga, Georg ; Marquardt, Thorsten ; Wittkowski, Helmut ; Westhoff, Petra Schulze ; Seelhöfer, Anja ; Park, Julien H

Heme oxygenase 1 (HO-1) is the pivotal catalyst for the primary and rate-determining step in heme catabolism, playing a crucial role in mitigating heme-induced oxidative damage. Pathogenic variants in the HMOX1 gene which encodes HO-1, are responsible for a severe, multisystem disease characterized by recurrent inflammatory episodes, organ failure, and an ultimately fatal course. Chronic hemolysis and abnormally low bilirubin levels are cardinal laboratory features of this disorder. In this study, we describe a patient with severe interstitial lung disease, frequent episodes of hyperinflammation non-responsive to immunosuppression, and fatal pulmonary hemorrhage. Employing exome sequencing, we identified two protein truncating variants in HMOX1, c.262_268delinsCC (p.Ala88Profs*51) and a previously unreported variant, c.55dupG (p.Glu19Glyfs*14). Functional analysis in patient-derived lymphoblastoid cells unveiled the complete absence of HO-1 protein expression and a marked reduction in cell viability upon exposure to hemin. These findings confirm the pathogenicity of the identified HMOX1 variants, further underscoring their association with severe pulmonary manifestations . This study describes the profound clinical consequences stemming from disruptions in redox metabolism.

Analysis

Perform a panoramic analysis of this field.

view full example data

AI Agents Built for Biopharma Breakthroughs

Accelerate discovery. Empower decisions. Transform outcomes.

Get started for free today!

Accelerate Strategic R&D decision making with Synapse, PatSnap’s AI-powered Connected Innovation Intelligence Platform Built for Life Sciences Professionals.

Start your data trial now!

Synapse data is also accessible to external entities via APIs or data packages. Empower better decisions with the latest in pharmaceutical intelligence.

Bio

Bio Sequences Search & Analysis

Chemical

Chemical Structures Search & Analysis

Heme Oxygenase 1 Deficiency

Basic Info

Related

Analysis