Understanding Hemosiderosis

What is Hemosiderosis?

Hemosiderosis (also known as hemophilia) is a genetic disorder that affects blood clotting. People with hemophilia have a deficiency in one or both of the proteins involved in blood coagulation. When these two proteins are deficient, they cannot form clots when exposed to certain types of injury such as bleeding from wounds, puncture wounds, and other injuries. The condition is inherited and occurs in approximately 1 out of every 20,000 individuals. It is most common among males between the ages of 15 and 35 years old. Approximately 10% of the population suffers from hemophilia A and 50% suffer from hemophilia B. There are no known treatments for hemophilia, but it does not affect fertility or cause birth defects.

The condition is caused by mutations in a gene called HLA-B*27. The mutation results in a lack of the protein beta-thalassemia factor (TAF). If someone has one copy of the mutated gene, then they will develop hemophilia A.

However, if they have two copies of the mutated gene, then they will develop hemophilia B.

Hemophilia (A and B) are separated into three different types based on where and when the symptoms typically appear. The three types of hemophilia are:

Types I: The symptoms typically occur during childhood.

Types II: The symptoms typically occur after the age of 3 and up to the teenage years.

Types III: The symptoms typically appear in adulthood.

Sources & references used in this article:

Magnetic resonance imaging of transfusional hemosiderosis complicating thalassemia major. by RC Brasch, GE Wesbey, CA Gooding, MA Koerper – Radiology, 1984 – pubs.rsna.org

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans by K Yoshida, K Furihata, S Takeda, A Nakamura… – Nature …, 1995 – nature.com

Variability in hepatic iron concentration in percutaneous needle biopsy specimens from patients with transfusional hemosiderosis by E Butensky, R Fischer, M Hudes… – American journal of …, 2005 – academic.oup.com

Hepatic hemosiderosis in non‐human primates: quantification of liver iron using different field strengths by JWM Bulte, GF Miller, J Vymazal… – Magnetic resonance …, 1997 – Wiley Online Library

Long‐term clinical course of patients with idiopathic pulmonary hemosiderosis (1979–1994): Prolonged survival with low‐dose corticosteroid therapy by N Kiper, A Göçmen, U Özçelik, E Dilber… – Pediatric …, 1999 – Wiley Online Library

Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia by SE Bernstein – The Journal of laboratory and clinical medicine, 1987 – translationalres.com