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hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

ORPHA: 46532

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome, sourced from HPO and Orphanet clinical annotations.

PallorSplenomegalyAnemiaHepatomegalyAbnormal bone structurePersistence of hemoglobin F

Classification & Codes

Orphanet Code

ORPHA:46532
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
OrphanetORPHA:46532
Treatments0 drug(s)
Symptoms on record6 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO