PHLEBOTOMIES, treatment guidelines, supplies, etc.

• A history of phlebotomy therapy for hemochromatosis.  Crosby WH. Chapman Cancer Center, Joplin, MO Am J Med Sci 1991 Jan  The earlier the disease is discovered, the less risk of morbidity and mortality. Screening tests (serum iron, total iron-binding capacity, serum ferritin) are recommended for all blood relatives of index cases of this hereditary disease and for all clinics where complications of hemochromatosis may be treated: liver disorder however mild, diabetes mellitus, heart disease, arthropathies, sterility, impotence, premature menopause, and abnormal pigmentation of the skin.

• Annals of Internal Medicine SUPPLEMENT DIAGNOSIS AND MANAGEMENT 
  Diagnosis of Hemochromatosis, Annals of Internal Medicine, 1 December 1998. 129:925-931. Lawrie W. Powell, MD; D. Keith George, MD; Sharon M. McDonnell, MD; and Kris V. Kowdley, MD

• Beneficial effect of phlebotomy on hepatitis C virus-associated musculoskeletal manifestations.
  Clin Rheumatol. 1998  Interestingly, the response to anti-inflammatory and second line drugs was poor but unexpectedly recurrent phlebotomies was followed by marked improvement of the symptoms. This observation suggests that iron overload may have some role in the pathophysiology of HCV associated rheumatic complications.

• Causes for non-symptomatic hyperferritinemia in lymphoma patients
  Lymphoma Inflammation and Iron Overload Disorders By Susan S. Gallant

• Change in the thyroid function by use of deferoxamine in a patient with hemochromatosis complicated by hyperthyroidism. J Med. 1992 We report on a 74-year-old female patient with primary hemochromatosis complicated by hyperthyroidism. The serum ferritin level was reduced throughout a 217 day administration of deferoxamine (1 g/day). At the same time, the thyroid gland was changed from hyper- to hypo- functional proportionally.

• Clinical Consequences of New Insights in the Pathophysiology of Disorders of Iron and Heme Metabolism Hematology 2000  The American Society of Hematology The screening strategy could be based on the assessment of serum transferrin saturation in adults aged 18 or more. Genetic testing testing for C282Y would be confined to individuals with transferrin saturation > 45%. This strategy would then avoid the ethical, logistical, and financial problems raised by systematic genetic testing as well as the societal impact of discovering a genetic mutation in asymptomatic persons without a disease. It is, in fact, essential that major changes occur in the attitudes towards unexpressed or slightly expressed HFE homozygosity, especially by insurers and health care administrators, to avoid any adverse genetic discrimination.

• Current concepts in rational therapy for haemochromatosis.  
  Drugs. 1991 Jun . Venesection should be continued until all excess iron stores are removed as judged by failure of a rise in haemoglobin concentration on cessation of phlebotomy. Screening of first degree relatives should commence from a young age (e.g. 10 years).

• Deferoxamine therapy in high-ferritin diabetes.
  Cutler P.  Diabetes 1989 Oct  Data show that lowering elevated ferritin levels correlated well with diabetes control and improved fasting glucose, triglyceride, and HbA1c in 8 of 9 patients with high ferritin levels. This study shows there is a need to study iron metabolism in poorly controlled diabetes and demonstrates the value of DFO in controlling high-ferritin diabetes.

• "Deironing process"  including the stages leading to iron deficiency from notes of Larry Dunn

• Desferrioxamine and vitamin E protect against iron and MPTP-induced neurodegeneration in mice. J Neural Transm 1997  Our data suggested that: (1) iron may induce neuronal damage and thus excessive iron in the brain may contribute to the neuronal loss in PD; (2) iron chelators and antioxidants may serve as potential therapeutic agents in retarding the progression of neurodegeneration.

• Diagnosis and management of hemochromatosis
  by Dr. Anthony Tavill, Director of the Maurice and Sadie Friedman Center For Digestive Diseases and Liver Disorders, Mathile and Morton J. Stone Professor of Digestive Diseases and Liver Disorders at the Mt. Sinai Medical Center, Professor of Medicine and Nutrition at Case Wetern Reserve University. [Excellent & thorough article of diagnosis & treatment.  This is a pdf file] 

• Drug Treatment for Iron Overload Deferiprone should be used in patients with thalassaemia and other patients with iron overload, who cannot receive effective or sufficient deferoxamine therapy. Optimal Wellness Health News Issue 166 August 13, 2000

• "Effect of phlebotomy treatment on diabetes mellitus and impaired glucose tolerance."  
  Excerpt from the "Barton" book  pg. 272-273. 

• Effects of testosterone and venesection on spinal and peripheral bone mineral in six hypogonadal men with hemochromatosis. J Bone Miner Res. 1991 Jan These data suggest that bone mineral increases in the lumbar spine and in the forearm in hypogonadal men with hemochromatosis treated by testosterone replacement and venesection.

• EMLA CREAM & Anesthetic Disks 
  (Eutectic Mixture of Local Anesthetic) topical anesthetic to use for lab draws & phlebotomies.

• Erythrocytapheresis with recombinant human erythropoietin in hereditary hemochromatosis therapy: a new alternative. Abstract  Vox Sang. 2000  In our experience, EA with rHuEPO and folic acid is a well-tolerated and useful procedure to reduce iron deposits and thus totally or partially correct associated dysfunctions. This method offers better results in less time than traditional phlebotomy and is an effective therapeutic alternative for patients with HH.   FULL TEXT, click here

• Factors affecting the rate of iron mobilization during venesection therapy for genetic hemochromatosis  Am J Hematol. 1998 May  There was no significant relationship between iron mobilization and patient age, gender, serum ferritin, and hepatic iron concentration.  Venesection therapy is safe and well tolerated in all age groups.
   

• Genetic Haemochromatosis:   A guideline on Diagnosis & Therapy compiled on behalf of the Clinical Task Force of the  British Committee for Standards in Haemotology  2/2000 [a pdf file]  Treatment recommended until Ferritin <20 TS<16%

• Haemoglobin AIc in patients on venesection therapy for haemochromatosis
  [Article in French] Diabete Metab 1982 Jun Thus, the decreased HbAIc rates observed in haemochromatosis patients may be ascribed to the venesection therapy, which induces an increased turnover of red cells, and consequently a decrease of the time available for their glycosylation.

• Hemochromatosis: A Common, Rarely Diagnosed Disease
  By Vincent J. Felitti, MD, FACP  Commentary by David Baer, MD, FACP.  Hemochromatosis is the most common, life-threatening genetic disorder in North America, yet most physicians have never personally diagnosed a case: all see an unrecognized case in their offices every two weeks.

• Hemochromatosis can now be appropriately defined as the presence of two hemochromatosis alleles with or without organ injury, and with or without the presence of iron overload. [I have not been able to retrieve the url to the website from where this came, so if anyone locates it, please let me know!]

• Hemochromatosis:  Conemaugh Health System   Hemochromatosis is a condition that develops when too much iron builds up in the body. Excess iron is stored in the organs, such as the kidneys, liver, and heart, and in the joint tissues.

• Hemochromatosis, Cooley Dickinson Hospital Editor: George R Bowers MD CDH Oncology  January 2000 Volume 4: No. 1.   Hemochromatosis is a common, genetically transmitted disease. The diagnosis of hemochromatosis is sometimes difficult and frequently missed. This issue will review the pathogenesis, diagnosis and treatment of this fascinating disease. Ms. Kathy Fleming will review the management of a most troubling complication of therapy---lymphedema. 

• Hemochromatosis, Front Range Gastroenterology Associates, P.C.  
  2030 Mountain View Avenue, Suite 300, Longmont, CO.  Basic statistics on HH.

• Hemochromatosis:  Life Extension Foundation website.  Disease, Prevention & Treatment 3rd editon.  Dietary & Vitamin recommendations listed here including calcium for blocking of iron absorption.

• Hemochromatosis Mutation Detection, Cys282Tyr and His63Asp  
  Guide to Clinical Laboratory Testing &  Interpretation of genetic testing. 

• Hepatic iron concentration in hereditary hemochromatosis does not saturate or accurately predict phlebotomy requirements.   Am J Gastroenterol. 1998 Mar  Olynyk JK, Luxon BA, Britton RS, Bacon BR. The phlebotomy requirement for treatment of HH cannot be accurately predicted from the initial HIC or serum ferritin level. Within the range examined, hepatic iron deposition did not saturate in HH.

• Hereditary Haemochromatosis and Iron Metabolism,
  Carlson J, Olsson S, eJIFCC vol 13 no 2, THE JOURNAL OF THE INTERNATIONAL FEDERATION OF CLINICAL CHEMISTRY.  Iron is easily removed from tissues through regular phlebotomy once a week until depleted iron stores are evident by S- ferritin < 30 µg/l.

• Hereditary Hemochromatosis 
  CME Activity, Release Date: 2/28/2000 Expiration Date: 2/28/2002 From the February 2000 Issue of Physician Assistant  Objectives: After reading the article, the reader should be able to:
  1. describe the pathophysiology of hereditary hemochromatosis;
  2. recognize the clinical symptoms and signs of hereditary hemochromatosis;
  3. outline screening and evaluation testing; and
  4. provide accurate diagnosis, management, and treatment.

• Hereditary Hemochromatosis FamilyPractice.com  Robert B. Hash, MD, Department of Family Medicine, Mercer University School of Medicine, Macon, Ga. [J Am Board Fam Pract Dec. 2000] Considering the prevalence of the disease, it is important for physicians to consider it in the differential diagnosis when patients complain of the common signs and symptoms. For most patients hereditary hemochromatosis can be successfully treated in the physician's office. Early diagnosis and treatment, before signs of iron toxicity, if possible, can result in improved quality and quantity of life for many patients.

• Hereditary hemochromatosis: Preventing chronic effects of this underdiagnosed disorder
  Sharon M. McDonnell, MD, MPH; David Witte, MD, PhD VOL 102 / NO 6 / DECEMBER 1997 / POSTGRADUATE MEDICINE.  In this article, Drs McDonnell and Witte discuss the diagnosis and management of this underrecognized problem as well as the various issues involved in screening. An illustrative case of hemochromatosis is also included.

• Hereditary Hemochromatosis Since Discovery of the HFE Gene  Clinical Chemistry 2001 [a pdf file] Includes an algorithm for screening and diagnosis of hemochromatosis. This review provides a comprehensive discussion of known mutations in the HFE gene and their phenotypic expression.

• Hypogonadism in hemochromatosis: reversal with iron depletion. 
  Ann Intern Med. 1984  Nov  Our findings indicate that in some men with hereditary hemochromatosis and hypogonadism of either testicular or central origin, sexual function and sex hormone concentrations can be restored to normal after iron depletion therapy.

• Hypogonadotropic hypogonadism in hemochromatosis: recovery of reproductive function after iron depletion  Journal of Clinical Endocrinology & Metabolism, Vol 65, 585-587, 1987  Thus, recovery of reproductive function, documented by hormone measurements, testicular biopsy, and semen analysis, was complete. We conclude that phlebotomy alone may be adequate treatment for hypogonadotropic hypogonadism in men with hemochromatosis.

• Idiopathic hemochromatosis: serum ferritin concentrations during therapy by phlebotomy.
  Clin Chem. 1982 Aug   Therapy involves mobilization and removal of excess stored iron through weekly or twice-weekly phlebotomies of 500 mL, until the hemoglobin concentration becomes less than 110 g/L and remains there for several weeks, or until serum ferritin concentrations indicate that almost all the stored iron has been removed (ferritin less than 12 micrograms/L).

• Investigating Anaemia and Iron Storage Disease
  Discussion of the different types of anemia, as well as the effects of iron overload.  

• Iron deficiency due to excessive therapeutic phlebotomy in hemochromatosis
  Am J Hematol 2000 Nov

• Iron is Hot:  An Update on the Pathophysiology of Hemochromatosis: Blood Journal Sept. 15, 1998  Genetic iron overload disorders are prevalent yet poorly understood. [A pdf file.]

• Iron Overload (Hemosiderosis; Hemochromatosis) The Merck Manual of Diagnosis and Therapy Section 11. Hematology And Oncology Chapter 128. Hemochromatosis is often diagnosed late in the course of disease after significant tissue injury is present because the clinical symptoms are insidious and the extent of organ involvement varies; thus, the full clinical picture evolves slowly

• Iron Status Assessment, stages of depletion, deficiency, anemia Spring 2001 [a pdf file]  This is excellent for its description of the 3 stages of decreasing iron levels.  Even when describing IDA, it can be used by the IO patient in learning more about assessing iron status. 

• Low serum 25-hydroxyvitamin D in hereditary hemochromatosis: relation to iron status. Gastroenterology. 1985 Apr  The results reveal that the low serum 25-OHD concentration in patients with hemochromatosis is directly related to the extent of iron loading and it is improved by venesection therapy.

• Management of hemochromatosis. Hemochromatosis Management Working Group.
  Ann Intern Med. 1998 Dec 1  Barton JC, McDonnell SM, Adams PC, Brissot P, Powell LW, Edwards CQ, Cook JD, Kowdley KV.  The complications of iron overload in hemochromatosis can be avoided by early diagnosis and appropriate management.

• MCV as a guide to phlebotomy therapy for hemochromatosis
  Transfusion Med 2001 [a pdf file]  The MCV is an inexpensive, precise, physiologic indicator of erythropoetic iron availability.  When used in conjunction with the Hb, it is a clinically useful guide to the pace of phlebotomy therapy for hemochromatosis.

• Peripheral blood erythrocyte parameters in hemochromatosis: evidence for increased erythrocyte hemoglobin content.  J Lab Clin Med. 2000 Jan   Barton JC, Bertoli LF, Rothenberg BE.  Southern Iron Disorders Center, We conclude that increased values of mean hemoglobin, hematocrit, MCV, MCH, and MCHC in hemochromatosis probands are caused primarily by increased iron uptake and hemoglobin synthesis by immature erythroid cells. Mechanisms of iron uptake by erythrocytes that could explain these results are discussed.

• Phlebotomy  Gale Encyclopedia of Medicine.   Instructions on correct technique of phlebotomy.

• Recovery of pancreatic beta-cell function in hemochromatosis: combined treatment with recombinant human erythropoietin and phlebotomy. 
  Am J Med Sci. 1997 Dec This case suggests that pancreatic beta-cell recovers in diabetes caused by hemochromatosis by reducing iron overload during a short period.

• Repeated isovolemic large-volume erythrocytapheresis in the treatment of idiopathic hemochromatosis. Z Gastroenterol. 1992 Nov  Isovolemic large-volume EA is an effective, fast and safe method to remove excessive stored iron in patients with HC. Compared to phlebotomy, EA can selectively remove RBC, while saving plasma proteins, platelets, and clotting factors. Although, the need for special equipment and trained personnel as well as the relatively high costs are limiting factors of EA so far, it can be of crucial advance in some patients with HC.

• Response to repeated phlebotomies in patients with non-insulin-dependent diabetes mellitus.
  Metabolism. 1994 May Bleeding produced a significant decrease in serum glucose, cholesterol, triglyceride, and apoprotein B concentration in diabetic patients.  Moreover, three nonrespondent diabetic patients with poor glycemic control responded normally 6 to 13 months later, in a second operation, when glycemic control had improved significantly.

• Reversibility of hypogonadotrophic hypogonadism associated with genetic haemochromatosis.
   Clin Endocrinol (Oxf) 1993 Jun In reviewing the other documented cases of reversal it would appear that the age at diagnosis is critical and there are no proven cases of reversal of hypogonadotrophic hypogonadism in men over the age of 40 at the start of venesection therapy.

• Should all patients with diabetes mellitus be screened for hemochromatosis?   Department of Family Medicine University of California, Los Angeles 924 Westwood Blvd, Suite 650 Los Angeles, CA 90095-1628  West J Med 2002;176:110-114  Enhanced case finding becomes the first stage in a public health response when evidence has emerged for an effective early treatment of a disorder. It means the detection of HHC at the time of early symptoms, and it allows patients to benefit from early phlebotomy.  The implementation of this approach would include adding fasting serum transferrin saturation to the usual workup of patients with newly diagnosed diabetes mellitus, arthritis, and impotence.  The CDC recommends such iron-overload testing in anyone with possible symptoms of hemochromatosis, which includes patients with newly diagnosed diabetes mellitus.

• Survival and causes of death in hemochromatosis.   Observations in 163 patients.
  Ann N Y Acad Sci. 1988  Life expectancy was reduced in patients who presented with cirrhosis or diabetes compared to patients who presented without these complications at the time of diagnosis. Patients who could be depleted of iron during the first 18 months of venesection therapy had a markedly better prognosis compared to those patients who could not be depleted during this time period.

• THERAPEUTIC PHLEBOTOMY (TP) FOR HEREDITARY HEMOCHROMATOSIS (HH): A PRACTICAL GUIDE FOR PATIENTS AND HEALTH CARE PERSONNEL
  James C. Barton, M.D.  Southern Iron Disorders Center

• Treatment of chronic iron overload. 
  Clin Pharm. 1991 Oct   Early detection and prompt treatment are necessary to prevent organ damage. Phlebotomy and iron chelation therapy are effective in the treatment of chronic iron overload.

• Understanding iron metabolism.  This is an email from Larry Dunn, where he attempts to discuss iron metabolism in a way to help in the understanding of the lab tests used in diagnosis,
  following the course of treatment, and knowing when you have arrived at the desired destination.

• What does an increased Transferrin saturation indicate?  Notes from Larry Dunn.

Click on this link to read about HH. Discussion of a liver biopsy is also here:

Back to the "Munnsters" main Hemochromatosis page