Oral Iron Therapy for Iron Deficiency Anemia Harmful and Cold-Water Emersion Helpful for Episodic Pain in A Patient with NaV1.7 Sodium Channel Gene SCN9A Hyperactive A1632E Mutation
Abstract
The first patient described with both paroxysmal episodic pain disorder and erythromelalgia secondary to a unique A1632E mutation of the SCN9A gene demonstrated early breath-holding spells and bradycardia requiring a pacemaker. Frequent episodes of pain were helped by routine oxcarbazepine-carbamazepine therapy from an early age. Additional relief was found when she was older and could jump into the family swimming pool or take a quick cold shower to lower pain intensity. Puberty was delayed. After it started, she became moderately anemic after excess menstrual blood loss over 2 years. Episodes of intermittent pain became more severe, particularly during menstrual periods. Frequent lower leg muscle pains developed as her anemia worsened. Oral iron therapy for iron deficiency anemia led to more intense muscle pains, particularly in her legs, and intense abdominal pain. The adverse reaction was attributed to ingested iron, with positive iron Fe+3 group binding to her de novo appearing mutant glutamic acid A1632E with negative carboxyl CO3- that was not a part of the normal SCN9A gene sequence. A unit of packed red cells, followed by another 3 months later, a vegetable based iron preparation, and an iron patch successfully treated her anemia and her symptoms improved
Read the paper
Related studies
- Noninvasive and Point-of-Care Surface-Enhanced Raman Scattering (SERS)-Based Breathalyzer for Mass Screening of Coronavirus Disease 2019 (COVID-19) under 5 min
- De Novo Transcriptome Analysis and Detection of Antimicrobial Peptides of the American Cockroach Periplaneta americana (Linnaeus)
- Molecular Characterization and Expression Profiling of Tomato GRF Transcription Factor Family Genes in Response to Abiotic Stresses and Phytohormones
- Assembly of Tight Junction Strands: Claudin-10b and Claudin-3 Form Homo Tetrameric Building Blocks that Polymerise in a Channel-Independent Manner
- Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening
- Machine Learning-Based SERS Chemical Space for Two-Way Prediction of Structures and Spectra of Untrained Molecules
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.