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

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

Afiliação

Alla SSM; Andhra Medical College Visakhapatnam India.
Agarwal P; Bhaskar Medical College Hyderabad India.
Shah DJ; Massachusetts College of Pharmacy and Health Sciences Boston Massachusetts USA.
Shajahan WA; Government Medical College Kozhikode Kozhikode India.
Ramsundar R; Sri Ramachandra Institute of Higher Education and Research (Deemed to be University) Chennai India.
Alla D; Andhra Medical College Visakhapatnam India.
Ravulapalli M; Bhaskar Medical College Hyderabad India.
Bora S; Dr Pinnamaneni Siddhartha Institute of Medical Sciences and Research Foundation Chinna Avutapalle India.
Pillai S; MS Ramaiah Medical College Bengaluru India.
Bayeh RG; Adama General Hospital and Medical College Nazret Ethiopia.
Repalle UK; Dr Pinnamaneni Siddhartha Institute of Medical Sciences and Research Foundation Chinna Avutapalle India.
Suhani F; Dayanand Medical College and Hospital Ludhiana India.

Clin Case Rep ; 12(6): e8986, 2024 Jun.

Article em En | MEDLINE | ID: mdl-38799538

ABSTRACT

Heme 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.

Palavras-chave

HMOX1 gene; asplenia; bilirubin synthesis; heme oxygenase deficiency

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article