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Hereditary elliptocytosis

Hereditary elliptocytosis is a blood disorder in which 50-90% of the red blood cells consist of rod forms and elliptocytes (that is, elliptical erythrocytes); often associated with a hemolytic anemia.

There are several autosomal dominant forms , with one form linked to the Rh blood group, caused by mutation in the gene encoding erythrocyte membrane protein band 4.1 (EPB41) on chromosome 1p, while the unlinked form is due to mutation either in the alpha-spectrin gene on 1q, or in the beta-spectrin gene on 14q or the band 3 gene on 17q. There is one autosomal recessive form known.

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Loss of examination status - Memorable Patients
From British Medical Journal, 11/25/00 by Stephen M Shalet

Lennie was a teacher; knowingly or otherwise, he certainly taught me a lot. It was my first medical firm attachment as a clinical student. Lennie wasn't the first patient who I was responsible for, but he was the most memorable. He had a multitude of diagnoses, some of which I had barely heard of and others not at all. Large multinodular goitre, mixed mitral stenosis and reflux, bronchiectasis, hereditary elliptocytosis, glaucoma, and an old Bell's palsy. He rattled off the list as you would a supermarket shopping list. Even if possessed, diagnostic skills were not required for Lennie's pathologies. His pride in the number and variety of the conditions and the obvious awe on the faces of the students who came to his bedside and hung on every word meant that diagnoses were blurted out instantly rather than revealed painfully slowly by a student historian.

He was in hospital on this occasion for a review of his current medical state. He, of course, was a regular as he volunteered his body on every conceivable occasion that student exams were held.

By nature he was a cheerful, optimistic man, who was happiest discussing his medical conditions and how their complexity and interaction had perplexed several consultants for many years. After a couple of weeks it transpired that decisions had been taken for Lennie to undergo mitral valve surgery and a thyroidectomy. He seemed calm about the impending operations. So I was all the more surprised when he returned to the medical ward several days after the second operation to find him distraught and tearful. He denied that he was in any pain or that there was anything wrong with his children or beloved grandchildren. Furthermore, his favourite team, West Ham, had won its last couple of matches. I pushed him a little harder about the cause of his distress, and then he blurted it out in little bursts.

"I'm finished, it's all over."

"Don't be silly, Lennie, you are fine and will live many years yet."

"I am not worried about how long I have to live."

"Then what troubles you?"

"They have stripped me of my physical signs. They will never use me again for student finals--no goitre, no mitral valve murmurs. I'm finished."

I fought hard and emphasised that he still had the bronchiectasis and the old Bell's palsy up his sleeve (so to speak), but I was in trouble trying to sell the physical signs associated with hereditary elliptocytosis. In truth, he was probably right, he never had the same cachet again as the star patient at the student exams.

It was then I realised that operative morbidity could have a wider meaning and that some patients have a greater commitment to a hospital than many doctors.

As for Lennie, he died nine months later; cause of death unknown, but I knew.

Stephen M Shalet professor of medicine, Manchester

COPYRIGHT 2000 British Medical Association
COPYRIGHT 2001 Gale Group

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