This page is dedicated to the Anemias and Iron Disorders research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.
The Anemias and Iron Disorders research study, established at Boston Children’s in 2021 and led by Dr. Mark Fleming, has already enrolled 41 patients and their families.
S. Burt Wolbach Professor of Pathology, Harvard Medical School
Disease information
Anemias and iron disorders are a group of disorders that affect the blood. These include:
- Inherited sideroblastic anemia
- IRIDA syndrome
- Hereditary hemochromatosis
- Porphyria
- Diamond-Blackfan anemia
- Anemia
- Iron deficiency anemia
- Macrocytic anemia
- microcytic anemia
- Normocytic anemia
- Hemolytic anemia
It is estimated that 10-30% of individuals with anemias or iron disorders have an underlying genetic cause for their disorder. In his interview on YouTube: Results from a murine model investigating bitopertin for the treatment of EPP, Dr. Fleming describes his work on developing a treatment for erythropoietic protoporphyria, one of the genetic diseases his team studies.
Learn more about anemias and iron disorders at Boston Children’s.
Key outcomes
From his prior protocol, which had enrolled more than 1,000 individuals, he has identified a cause of congenital iron deficiency anemia (PMC3104019) as well as multiple new causes of congenital sideroblastic anemia (26491070, PMC8511274, PMC7524500, PMC6269294, PMC6269299, PMC5064715, PMC5059179, PMC4215314, PMC3943703).
Participate in research
Physicians may refer their patients with diagnoses of anemia or iron disorders to Dr. Fleming. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Fleming’s studies, including the Anemias and Iron Disorders study, on Dr. Fleming's research profile.
Patient care
Patients and their families with anemias or iron disorders can be seen by an expert multidisciplinary team in the Cancer and Blood Disorders Center at Boston Children’s. Learn more about anemias and iron disorders.
Investigator
Divisions
Notable publications
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9
Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA binding site mutations
Patient stories
A six-year-old boy with a history of anemia was referred to the Boston Children’s Bone Narrow Clinic for evaluation. Bone marrow was reviewed due to a low lymphocyte count, which suggested a diagnosis of an unusual genetic anemia turned into congenital dyserythropoietic anemia. Through subsequent genetic testing, two variants in a gene not previously associated with dyserythropoietic anemias were identified. Importantly, this gene had been associated with an immunodeficiency, which could account for the patient’s mild leucopenia, and led to further investigation of the patient’s immune system. In retrospect, the child had multiple ear infections and a persistent cough for the last year, suggesting a clinical immunodeficiency. A review of other patients in the study database identified another patient with mutations in the same gene with an overlapping phenotype. This discovery led to the conclusion that mutations in this gene should be considered in the diagnosis of rare anemias. In the case of these two patients, long-term intravenous immunoglobulin therapy will be started to prevent future infections.
Disease support organizations
Iron Disorders Institute
Iron Disorders Institute (IDI) is a national agency that provides reliable information about iron disorders, concentrates efforts on education and raising awareness, and advocates for those affected by the disorders to government health agencies, the media, health policy and lawmakers, and the medical community.