Peter Mac-led study finds answers to rare blood diseases in eyebrow hair
John Wilson was incorrectly diagnosed with a condition he had feared he would pass on to his children. This is the incredible science behind how his eyebrow hairs finally gave him answers.
Many people with rare inherited blood diseases now have the right name, and treatment, for their condition after Australian scientific “sleuths” solved a decades-long diagnostic mystery using eyebrow hair.
Until now patients were told they had Inherited Bone Marrow failure Syndrome, an umbrella term for a group of conditions affecting the bone marrow, because many were impossible to accurately identify.
Now a Peter MacCallum Cancer Centre-led study has used whole genome and transcriptome sequencing (WGTS) to finally give the many a correct diagnosis.
Study lead Professor Piers Blombery said eyebrow hair was used as it has the thickest bulb.
“We take approximately 10 hairs from each side to keep them even,” he said.
The study not only identified little known conditions such as hereditary thrombocytopenia, telomere biology disorders, Diamond-Blackfan anaemia, primary red cell disorders, severe congenital neutropenia, Shwachman Diamond Syndrome and Fanconi anaemia, it also found new ways to improve diagnosis.
It was led by haematologists Professor Blombery with Dr Lucy Fox and the team at the Wilson Centre for Blood Cancer Genomics at Peter Mac.
The study group also included the Murdoch Children’s Research Institute, Victorian Clinical Genetics Services, Royal North Shore Hospital in Sydney and Monash and Melbourne Universities.
The scientists hope the complex genetic test can be funded under the Medicare Benefits Schedule and offered as a routine diagnostic tool.
Professor Blombery said for patients the results were life-changing and profound.
“It is information which is pivotal to their ongoing care,” he said.
The team enrolled 237 patients from across Australia and 88 for the first time received the right name for their condition.
“Many had the wrong diagnosis their entire lives,” Professor Blombery said. “An accurate diagnosis is one of the most important aspects of a patient’s care and the patients in this study all had likely inherited blood diseases, but no specific diagnosis.
“Without a diagnosis we can’t treat patients optimally, test family members, help patients understand what to expect and ultimately find cures.”
John Wilson, 36, and his older brother, who asked not to be named, joined the study for answers.
“We were always under the impression that we would pass our genetic condition on to any children, which is obviously a very hard conversation to have with significant others. So I started off with this study (to find out),” Mr Wilson said.
The brothers were born with the same rare blood condition, incorrectly diagnosed as congenital dyserythropoietic anaemia.
“Part of the reason mum and dad had me was for me to be a bone marrow donor for my brother,” Mr Wilson said. “It was the right decision at the time, but when I was born I was so much worse.”
He said there was no cure for their condition, but being part of this study had given the brothers reassurance that their condition, now correctly identified as hereditary spherocytosis, would not be passed on to their children.
“I’ve spent a lifetime in the hospital system, and it has resulted in myself having complex Post-traumatic stress disorder,” Mr Wilson said. “This study has gone a long way in helping me kind of heal from that. Just purely because there’s no more guesswork around what this is that we’re dealing with. It’s closed that door, which has been really good.”
The study was funded through the Medical Research Future Fund and supported by the Wilson Centre for Blood Cancer Genomics and Maddie Riewoldt’s Vision.
The results will be presented today by Dr Fox at a major haematology conference in Orlando, Florida.
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Originally published as Peter Mac-led study finds answers to rare blood diseases in eyebrow hair
