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Diagnosis and treatment of anaemias and iron metabolism disorders

Professor John Porter and his colleagues specialise in the diagnosis and treatment of inherited and acquired anaemias, as well as disorders of iron metabolism.


naemias cause insuffi cient oxygen

carrying capacity in the blood, resulting from

of lowered levels of haemoglobin in red cells. Numerically, the most important inherited anaemias, both in the UK and internationally, are the haemoglobin disorders; namely thalassaemias and sickle cell disor- ders. Severe forms of thalassaemias require lifelong blood transfusion causing iron overload and severe tissue damage. T is can be minimised by careful removal of iron overload with iron chelation therapy, in which internationally recognised expertise is off ered. Management is complex and requires expert monitoring of iron overload and its eff ects on heart, endocrine system and fertility, as well as for unintended eff ects of iron chelators. Curative therapies include the option of bone marrow trans- plantation from a matched relative in carefully selected patients. More recently, the fi rst thalassaemia patients in the UK have success- fully been treated with gene therapy rendering them free of transfusion requirement. Expertise is also off ered in sickle cell disease, which is a devas- tating and often painful inherited anaemia that’s particularly frequent

T e most important inherited anaemias, both in the UK and internationally, are the haemoglobin disorders; namely thalassaemias and sickle cell disorders

in patients of African descent and is now the commonest genetic disorder in the UK. Expertise in non-curative treatment is off ered, involving drugs

that improve the characteristics of the patients’ own red cells or red cell exchange therapy where these are ‘swapped’ with donor red cells using exchange transfusion. Curative ther- apies with bone marrow transplant or gene therapy may also be appro- priate in selected cases of sickle cell disease. T e group also has expertise in anaemias associated with insuf- fi cient iron availability for haemo- globin synthesis, as well as a special interest in genetic conditions where excess iron develops in the body such as haemochromatosis. Professor Porter is an expert in the

treatment of disorders of haemoglobin and iron metabolism, with over 400 peer review research publications in these areas. He’s been intimately involved novel

in the development of treatments such as new iron

chelators, novel transfusions, novel monitoring of iron overload and novel curative therapies such as gene therapy. He’s the recipient of numerous awards for his work, including

the British Society of

Haematology Medal, International Bioiron Society Award for excellence in Research and the Lionel Whitby Medal from Cambridge University for his research work on iron chelation.

For enquiries, please contact Teresa Macdonald. T: 020 7679 6221 / 0753 5679957 E:

What you need to know about age-related macular degeneration

Mr Maan Kasmiya is a consultant ophthalmic surgeon at King’s College Hospital and honorary clinical lecturer at Imperial College London A

ge-related macular degenera- tion (ARMD/AMD) is a condi- tion that involves the central

area of retina (macula). It usually aff ects patients after the age of 55 and leads to the loss of central vision. However, the peripheral vision gener- ally stays preserved.

ARMD has two types 1. Dry ARMD: 85-90% of all cases that develop slowly. T e macula gets thinner with age and tiny clumps of protein called drusen appears. T is can develop to geographic atrophy (GA) in advanced cases.

2. Wet ARMD: 10-15% have sudden onset, which leads to severe central loss of vision. Less common, but more serious due to abnormal blood vessels growing under the retina and leaking blood or fl uids, causing scarring of the macula.

Dry ARMD can develop to Wet in around 10-15% of cases, but the latter is widely treatable with a course of anti-VEGF medication delivered through a small injection inside the eyeball. Benchmark studies showed around 90% of treated Wet ARMD stabilised the vision while a further 30% showed improvement in the vision with the treatment. T ere’s a new way to deliver the injection called the Port Delivery System (PDS), which

is an intravitreal reservoir implant, the size of a grain of rice, placed as a one-time surgical procedure, containing a highly concentrated drug slowly released over a six-month period, T e device can simply be refi lled in the clinic. Dry ARMD treatment is limited, but

prevention plays an important role as there are various modifi able risk factors including smoking cessation, reduction in body mass index and treatment of hypertension. The Age-Related Eye Disease

study showed that antioxidant and mineral supplementation can reduce the risk of progression in moderate ARMD. T ere are further ongoing clinical

trials looking at possible treatment for dry ARMD, include small inhib- itory RNA molecules, monoclonal antibodies, gene therapy, anti-infl am- matory medications, antioxidants and cell-based therapies. Many people don’t realise they have

ARMD until their vision is very blurry; therefore, it’s recommended to keep regular check-ups to detect the early signs of ARMD before any serious vision problems develop.



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