• Dr. Bloomer is Professor Emeritus of Medicine. He received his medical degree from Western Reserve Medical School and completed his fellowship training in gastroenterology at Yale University. Dr. Bloomer is considered to the one of the leading experts in the treatment of hepatitis B and porphyria, and is world renowed for his research in genetic diseases of the liver. Since joining UAB in 1995 he has aided in the growth of services available to patients sufering from liver related diseases. Dr. Bloomer is active in the Faculty practice treating patients suffering from all liver related disorders. He is also active in both basic science and clinical research with a focus in liver disease, porphyria, genetics, and hepatitis B.
  • Selected Publications

    Academic Article

    Year Title Altmetric
    2019 Feasibility of cellular bioenergetics as a biomarker in porphyria patientsMolecular Genetics and Metabolism Reports.  19. 2019
    2018 ReplyHepatology.  67:803-804. 2018
    2018 Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyriaMolecular Genetics and Metabolism2018
    2017 Acute hepatic porphyrias: Recommendations for evaluation and long-term managementHepatology.  66:1314-1322. 2017
    2017 Clinical, biochemical, and genetic characterization of north American patients with erythropoietic protoporphyria and x-linked protoporphyriaJAMA Dermatology.  153:789-796. 2017
    2016 Master's Perspective: Joseph Bloomer, M.D.Hepatology.  64:8-12. 2016
    2016 Alcoholic liver disease presents at advanced stage and progresses faster compared to non-alcoholic fatty liver diseaseAnnals of hepatology.  15:183-189. 2016
    2015 Autoimmune Markers Do Not Impact Clinical Presentation or Natural History of Steatohepatitis-Related Liver DiseaseDigestive Diseases and Sciences.  60:3788-3793. 2015
    2015 Pitfalls in erythrocyte protoporphyrin measurement for diagnosis and monitoring of protoporphyriasClinical Chemistry.  61:1453-1456. 2015
    2015 Afamelanotide for erythropoietic protoporphyriaNew England Journal of Medicine.  373:48-59. 2015
    2015 Diabetes Mellitus Predicts Occurrence of Cirrhosis and Hepatocellular Cancer in Alcoholic Liver and Non-alcoholic Fatty Liver Diseases.Journal of Clinical and Translational Hepatology.  3:9-16. 2015
    2015 Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosisPediatric Transplantation.  19:E106-E110. 2015
    2014 Acute porphyrias in the USA: Features of 108 subjects from porphyrias consortiumAmerican Journal of Medicine.  127:1233-1241. 2014
    2014 Risk factors associated with reoperation for bleeding following liver transplantationHPB Surgery.  2014. 2014
    2014 Surveillance for hepatocellular carcinoma: Evidence, guidelines and utilizationAmerican Journal of the Medical Sciences.  347:415-419. 2014
    2013 Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and X-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyriaMolecular Medicine.  19:26-35. 2013
    2012 Exam 1: Radiation Exposure From Diagnostic Imaging Among Patients With Gastrointestinal DisordersClinical Gastroenterology and Hepatology.  10:e29-e30. 2012
    2012 Equivalent survival following liver transplantation in patients with non-alcoholic steatohepatitis compared with patients with other liver diseasesHPB.  14:625-634. 2012
    2011 CME Activities - Exam 2 - 2011-08Clinical Gastroenterology and Hepatology.  9:e84. 2011
    2011 CME Activities–Exams 1 and 2Clinical Gastroenterology and Hepatology.  9:e82-e83. 2011
    2011 Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyriaExperimental Hematology.  39:784-794. 2011
    2011 Racial differences in hepatitis C treatment eligibilityHepatology.  54:70-78. 2011
    2010 CME Activities–Exams 1 and 2Clinical Gastroenterology and Hepatology.  8:e69-e70. 2010
    2010 Autoimmune hepatitis-primary sclerosing cholangitis overlap syndrome complicated by Crohn's diseaseDigestion.  82:24-26. 2010
    2008 Level of expression of the nonmutant Ferrochelatase allele is a determinant of biochemical phenotype in a mouse model of erythropoietic protoporphyria.Gene Regulation and Systems Biology.  2:233-241. 2008
    2007 {A figure is presented}Intermittent Unexplained Abdominal Pain: Is It Porphyria?Clinical Gastroenterology and Hepatology.  5:1255-1258. 2007
    2007 Use of extracorporeal albumin dialysis for erythropoietic protoporphyriaLiver Transplantation and Surgery.  13:639-640. 2007
    2006 Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyriaPediatrics (Spanish Edition).  118. 2006
    2006 Biochemical abnormality in erythropoietic protoporphyria: Cause and consequencesJournal of Pediatric Gastroenterology and Nutrition.  43. 2006
    2006 Reconstitution of hematin for intravenous infusion [8]Annals of Internal Medicine.  144:537-538. 2006
    2005 Liver transplantation for erythropoietic protoporphyria liver diseaseLiver Transplantation and Surgery.  11:1590-1596. 2005
    2005 Erratum: Recommendations for the diagnosis and treatment of the acute porphyrias (Annals of Internal Medicine (2005) 142 (439-450))Annals of Internal Medicine.  143:316. 2005
    2005 Molecular studies of liver disease in erythropoietic protoporphyriaJournal of Clinical Gastroenterology.  39. 2005
    2005 Recommendations for the diagnosis and treatment of the acute porphyriasAnnals of Internal Medicine.  142:439-450. 2005
    2004 Regulation of ferrochelatase gene expression by hypoxiaLife Sciences.  75:2035-2043. 2004
    2003 Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyriaMolecular Genetics and Metabolism.  80:196-206. 2003
    2002 Erythropoietic protoporphyria: Altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutationsJournal of The American Academy of Dermatology.  46:861-866. 2002
    2002 Treatment of recurrent allograft dysfunction with intravenous hematin after liver transplantation for erythropoietic protoporphyriaTransplantation.  73:911-915. 2002
    2002 Ferrochelatase gene mutations in erythropoietic protoporphyria: focus on liver disease.Cellular and Molecular Biology.  48:83-89. 2002
    2000 18 Chronic hepatitis C and porphyria cutanea tardaBiomedical Research Reports.  2. 2000
    2000 Hypoxia, a novel inducer of ferrochelatase gene in a human erythroleukemia cell lineBlood.  96. 2000
    2000 Theodore Woodward Award. Pathogenesis of biochemical abnormalities in protoporphyria.Transactions- American Clinical and Climatological Association.  111. 2000
    1999 Hepatopulmonary syndrome and venous emboli causing intracerebral hemorrhages after liver transplantation: A case reportTransplantation.  68:1809-1811. 1999
    1999 The diagnostic challenge of porphyriaPatient Care -Darien Connecticut then Montvale-.  33:57-75. 1999
    1999 Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase geneJournal of Investigative Dermatology.  113:87-92. 1999
    1998 A novel stop codon mutation (X417L) of the ferrochelatase gene in bovine protoporphyria, a natural animal model of the human diseaseBBA - Molecular Basis of Disease.  1408:18-24. 1998
    1998 Methotrexate-induced Hepatic Necrosis Requiring Liver Transplantation in a Patient with Rheumatoid ArthritisInternational Surgery.  83:224-225. 1998
    1998 Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantationJournal of Clinical Investigation.  102:107-114. 1998
    1998 Complications of cirrhosis: Why they occur and what to do about themPostgraduate Medicine.  103:209-224. 1998
    1998 Hepatic porphyrias.Clinics in Liver Disease.  2. 1998
    1998 Liver metabolism of porphyrins and haemJournal of Gastroenterology and Hepatology.  13:324-329. 1998
    1997 Hepatic protoporphyrin metabolism in patients with advanced protoporphyric liver diseaseYale Journal of Biology and Medicine.  70:323-330. 1997
    1997 Environmental chemical exposures and disturbances of heme synthesisEnvironmental Health Perspectives.  105:37-53. 1997
    1996 Hematin therapy in children with protoporphyric liver diseaseJournal of Pediatric Gastroenterology and Nutrition.  23:402-407. 1996
    1996 Mortality in patients with acute intermittent porphyria requiring hospitalization: A United States case seriesAmerican Journal of Medical Genetics.  65:269-273. 1996
    1996 Follow-up after liver transplantation for protoporphyric liver diseaseLiver Transplantation and Surgery.  2:269-275. 1996
    1996 Passing the torch: A look back at our editorshipGastroenterology.  110:1336-1338. 1996
    1995 Arteriohepatic dysplasia (Alagille's syndrome): unusual hepatic architecture and functionGastrointestinal radiology.  20:191-196. 1995
    1995 An anesthetized model of lethal canine galactosamine fulminant hepatic failureHepatology.  21:796-804. 1995
    1995 Gel-entrapment bioartificial liver therapy in galactosamine hepatitisJournal of Surgical Research.  59:179-184. 1995
    1995 Hepatic levels of cyclosporine and metabolites in patients after liver transplantationClinical Transplantation.  9:35-38. 1995
    1995 Review of support systems used in the management of fulminant hepatic failureDigestive Diseases.  13:379-388. 1995
    1993 Evidence for neurological dysfunction in end‐stage protoporphyric liver diseaseHepatology.  18:1404-1409. 1993
    1992 Hemolytic anemia in protoporphyria: Possible precipitating role of liver failure and photic stressAmerican Journal of Hematology.  39:202-207. 1992
    1991 The functional size of ferrochelatase determined in situ by radiation inactivationJournal of Biological Chemistry.  266:24637-24641. 1991
    1991 Bile porphyrin analysis in the evaluation of variegate porphyriaNew England Journal of Medicine.  324:1408-1411. 1991
    1991 Immunochemical studies of ferrochelatase protein: Characterization of the normal and mutant protein in bovine and human protoporphyriaAmerican Journal of Human Genetics.  48:72-78. 1991
    1991 Early liver transplantation is indicated for tyrosinemia type IJournal of Pediatric Gastroenterology and Nutrition.  13:10-15. 1991
    1991 Hematin therapy for the neurologic crisis of tyrosinemiaJournal of Pediatrics.  118:136-139. 1991
    1991 Heme synthesis in protoporphyria.Current Problems in Dermatology -Basel-.  20:135-147. 1991
    1990 Comparison of bile porphyrin concentrations in cattle and human beings with protoporphyria.American Journal of Veterinary Research.  51:1144-1146. 1990
    1990 HEMATIN THERAPY IN LATE ONSET CONGENITAL ERYTHROPOIETIC PORPHYRIABritish Journal of Haematology.  75:617-618. 1990
    1990 Liver biopsy in the long-term follow-up of liver transplant patients: Still the gold standard (I: Reply)Gastroenterology.  99:1183. 1990
    1990 Liver in disorders of porphyrin metabolismJournal of Gastroenterology and Hepatology.  5:573-585. 1990
    1990 Porphyria and porphyrin metabolismAnnual Review of Medicine.  41:457-469. 1990
    1990 ReplyGastroenterology.  98:1726-1727. 1990
    1990 The pathology of liver allograft surving longer than one yearHepatology.  11:465-470. 1990
    1989 Liver transplantation in a patient with protoporphyriaGastroenterology.  97:188-194. 1989
    1989 Modulation of hepatic ferrochelatase activity by dietary manipulation of mitochondrial phospholipid fatty acyl groupsHepatology.  9:557-561. 1989
    1989 Nodular regenerative hyperplasia of the liver following bone marrow transplantationHepatology.  9:443-448. 1989
    1989 The porphyriasDisease-A-Month.  35. 1989
    1988 Hepatic and bile porphyrins in patients with protoporphyria and liver failureGastroenterology.  94:1488-1492. 1988
    1988 The liver in protoporphyriaHepatology.  8:402-407. 1988
    1987 Effect of succinylacetone administration on brain heme metabolism and behavior in miceBiochemical Pharmacology.  36:3084-3086. 1987
    1987 The enzyme defect in bovine protoporphyria. Studies with purified ferrochelataseJournal of Biological Chemistry.  262:667-671. 1987
    1987 Liver allograft rejection. An analysis of the use of biopsy in determining outcome of rejectionAmerican Journal of Surgical Pathology.  11:1-10. 1987
    1987 Red blood cell porphobilinogen deaminase in the evaluation of acute intermittent porphyriaJournal of the American Medical Association.  257:60-61. 1987
    1987 An analysis of histological prognostic features of liver allograft rejection based on 270 serial biopsies.Transplantation Proceedings.  19:2457-2458. 1987
    1987 Use of triple therapy and percutaneous needle biopsy to minimize graft failure following liver transplantation.Transplantation Proceedings.  19:2451-2453. 1987
    1987 Abnormal liver function tests. How to assess their importance in asymptomatic patientsPostgraduate Medicine.  81:45-51. 1987
    1987 Cytomegalovirus infection of the liver in transplant recipientsJournal of Clinical Gastroenterology.  9:659-665. 1987
    1987 Progressive bile duct injury after thiabendazole administrationGastroenterology.  93:245-249. 1987
    1986 Fulminant Wilson's disease treated with postdilution hemofiltration and orthotopic liver transplantationGastroenterology.  90:2004-2007. 1986
    1984 Metabolism during hepatic transplantation: Indicators of allograft functionSurgery.  96:664-674. 1984
    1984 Orthotopic Liver Transplantation: A Pathological Study of 63 Serial Liver Biopsies from 17 Patients with Special Reference to the Diagnostic Features and Natural History of RejectionHepatology.  4:1212-1222. 1984
    1984 The Liver in Crigler‐Najjar Syndrome, Protoporphyria, and Other Metabolic DisordersHepatology.  4:18S-21S. 1984
    1983 Enzymatic formation of zinc-protoporphyrin by rat liver and its potential effect on hepatic heme metabolismGastroenterology.  85:663-668. 1983
    1983 Managing cirrhosis in the geriatric patientGeriatrics -Minnesota-.  38:66-74. 1983
    1982 A radiochemical assay for heme synthase activityEnzyme.  28:220-231. 1982
    1982 Bovine protoporphyria: Documentation of autosomal recessive inheritance and comparison with the human disease through measurement of heme synthase activityAmerican Journal of Human Genetics.  34:322-330. 1982
    1982 Effect of hematin administration to patients with protoporphyria and liver diseaseHepatology.  2:817-821. 1982
    1982 Evidence That Hepatic Crystalline Deposits in a Patient with Protoporphyria Are Composed of ProtoporphyrinGastroenterology.  82:569-572. 1982
    1982 Protoporphyria.Seminars in Liver Disease.  2:143-153. 1982
    1981 Enzyme defects in the porphyrias and their relevance to the biochemical abnormalities in these disordersJournal of Investigative Dermatology.  77:102-106. 1981
    1981 Management of the intractable cholestasis of primary biliary cirrhosis.Seminars in Liver Disease.  1:345-353. 1981
    1981 Unconjugated hyperbilirubinemia: A manifestation of many disordersJournal of Clinical Gastroenterology.  3:91-92. 1981
    1980 Hepatic Porphyrins in Variegate PorphyriaNew England Journal of Medicine.  303:1368-1369. 1980
    1980 The Enzymatic Defect in Variegate Porphyria: Studies with Human Cultured Skin FibroblastsNew England Journal of Medicine.  302:765-769. 1980
    1980 Serum alpha-fetoprotein in nonneoplastic liver diseasesDigestive Diseases and Sciences.  25:241-242. 1980
    1980 A fluorometric assay for measurement of protoporphyrinogen oxidase activity in mammalian tissueClinica Chimica Acta.  100:259-266. 1980
    1980 Effect of an exogenous succinyl-CoA-generating system on the measurement of δ-aminolevulinic acid synthase activity in rat liver tissue by a radiochemical assayBBA - Enzymology.  611:72-78. 1980
    1980 Benign recurrent intrahepatic cholestasis: Studies of bilirubin kinetics, bile acids, and cholangiographyGut.  21:154-160. 1980
    1980 Characterization of deficient heme synthase activity in protoporphyria with cultured skin fibroblastsJournal of Clinical Investigation.  65:321-328. 1980
    1980 Effect of hematin administration to patients with protoporphyria and liver diseaseGastroenterology.  79:1100. 1980
    1980 Liver studies Medical Evaluation of Long-Term Methadone-Maintained clientsDHSS PUBL..  No (ADM) 81-1029:24-32. 1980
    1979 Chronic hepatitis associated with drug abuse: significance of hepatitis B virusYale Journal of Biology and Medicine.  52:135-140. 1979
    1979 Itch in liver disease: facts and speculationsYale Journal of Biology and Medicine.  52:77-82. 1979
    1979 Pathogenesis and therapy of liver disease in protoporphyriaYale Journal of Biology and Medicine.  52:39-48. 1979
    1979 Comparison of human and bovine protoporphyria.Yale Journal of Biology and Medicine.  52:449-454. 1979
    1979 Enzymatic Fluorometry for Estimating Serum Total Bile Acid ConcentrationJournal of the American Medical Association.  241:2043-2045. 1979
    1979 Effect of endogenous heme generation on δ-aminolevulinic acid synthase activity in rat liver mitochondriaJournal of Biological Chemistry.  254:3543-3546. 1979
    1979 ReplyJournal of Pediatrics.  94:500. 1979
    1978 Efficacy and safety of long-term phenobarbital therapy of familial cholestasisJournal of Pediatrics.  93:127-132. 1978
    1978 Fecal bile acids in green diarrheaPediatric Research.  12. 1978
    1977 Elevations in skin tissue levels of bile acids in human cholestasis: relation to serum levels and to pruritusGastroenterology.  73:1125-1130. 1977
    1977 Heme content of normal and porphyric cultured skin fibroblastsBiochemical Genetics.  15:1061-1070. 1977
    1977 Serum α-Fetoprotein in Patients with Massive Hepatic NecrosisGastroenterology.  72:479-482. 1977
    1977 Study of factors causing excess protoporphyrin accumulation in cultured skin fibroblasts from patients with protoporphyriaJournal of Clinical Investigation.  60:1354-1361. 1977
    1976 Effect of graded bilirubin loads on bilirubin transport by perfused rat liverAmerican Journal of Physiology.  230:736-742. 1976
    1976 Serum bile acids in alcoholic liver disease - Comparison with histological features of the diseaseAmerican Journal of Digestive Diseases.  21:281-285. 1976
    1976 Effect of drug withdrawal on hepatic abnormalities in parenteral narcotic addictsGastroenterology.  70:987. 1976
    1976 Inhibitory Effects of Scillaren and Dinitrophenol on Bilirubin Excretion by the Isolated Perfused Rat LiverProceedings of the Society for Experimental Biology and Medicine.  151:539-542. 1976
    1976 Serum Bile Acids in Primary Biliary CirrhosisArchives of Internal Medicine -New Series-.  136:57-61. 1976
    1976 The Hepatic Porphyrias: Pathogenesis, Manifestations, and ManagementGastroenterology.  71:689-701. 1976
    1975 α-Fetoprotein in Nonneoplastic Hepatic DisordersJournal of the American Medical Association.  233:38-41. 1975
    1975 Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblastsJournal of Clinical Investigation.  56:1139-1148. 1975
    1975 Hepatic disease in erythropoietic protoporphyriaAmerican Journal of Medicine.  58:869-882. 1975
    1975 Phenobarbital effects in cholestatic liver diseaseAnnals of Internal Medicine.  82:310-317. 1975
    1975 Phenobarbital induced changes in liver plasma membrane phosphatase enzymesClinical research.  23. 1975
    1975 Relationship of Serum α-Fetoprotein to the Severity and Duration of Illness in Patients With Viral HepatitisGastroenterology.  68:342-350. 1975
    1974 Birefringence of hepatic pigment deposits in erythropoietic protoporphyria. Specificity and sensitivity of polarization microscopy in the identification of hepatic protoporphyrin depositsGastroenterology.  67:294-302. 1974
    1974 Canalicular bile secretion in man. Studies utilizing the biliary clearance of [14C]mannitolJournal of Clinical Investigation.  54:773-781. 1974
    1974 Variation in hepatic bile composition following cholecystectomy in patients with previous gallstonesYale Journal of Biology and Medicine.  47:211-217. 1974
    1974 Hepatic clearance of unconjugated bilirubin in cholestatic liver diseasesAmerican Journal of Digestive Diseases.  19:9-14. 1974
    1973 Influence of albumin on the extravascular distribution of unconjugated bilirubinClinical science and molecular medicine.  45:517-526. 1973
    1973 Influence of albumin on the hepatic uptake of unconjugated bilirubinClinical science and molecular medicine.  45:505-516. 1973
    1973 Inhibition of bilirubin excretion in man during dehydrocholate choleresisGastroenterology.  65. 1973
    1973 Improvement of hepatic excretory function by phenobarbital therapy in familial intrahepatic cholestasisPediatric Research.  7:334. 1973
    1972 Bilirubin production as a measure of red cell life spanJournal of Laboratory and Clinical Medicine.  79:364-378. 1972
    1972 Quantitative studies of the delivery of hepatic-synthesized bilirubin to plasma utilizing -aminolevulinic acid-4- 14 C and bilirubin- 3 H in man.Journal of Clinical Investigation.  51:2450-2458. 1972
    1971 Interpretation of Plasma on Studies WithJournal of the American Medical Association.  218:216-220. 1971
    1971 Studies on the mechanism of fasting hyperbilirubinemia.Gastroenterology.  61:479-487. 1971
    1971 Blood Volume and Bilirubin Production in Acute Intermittent PorphyriaNew England Journal of Medicine.  284:17-20. 1971
    1971 Bilirubin metabolism in congenital nonhemolytic jaundicePediatric Research.  5:256-264. 1971
    1971 Excess lipofuscin accumulation in constitutional hepatic dysfunction (Gilbert's syndrome). Light and electron microscopic observations.Archives of Pathology and Laboratory Medicine.  91:41-47. 1971
    1971 The measurement of the synthetic rate of bilirubin from hepatic hemes in patients with acute intermittent porphyria.Journal of Clinical Investigation.  50:2259-2265. 1971
    1970 Y and Z: New Terms in the Bilirubin EquationNew England Journal of Medicine.  283:1166-1167. 1970
    1970 The kinetics of organic anion excretion by the liver in acute intermittent porphyria.Clinical Science.  38:677-686. 1970
    1970 Comparison of fecal urobilinogen excretion with bilirubin production in normal volunteers and patients with increased bilirubin productionClinica Chimica Acta.  29:463-471. 1970
    1970 Constitutional hepatic dysfunction (Gilbert's syndrome). A new definition based on kinetic studies with unconjugated radiobilirubinAmerican Journal of Medicine.  49:296-305. 1970
    1970 Preparation and properties of specifically labeled radiochemically stable 3H-bilirubinJournal of Laboratory and Clinical Medicine.  75:499-502. 1970
    1969 Studies of bilirubin kinetics in normal adults.Journal of Clinical Investigation.  48:2176-2190. 1969


    Year Title Altmetric
    2005 Evaluation of hepatic function.  129-138. 2005

    Education And Training

  • Doctor of Medicine, Case Western Reserve University 1966
  • UCSF Medical Center, Internship 1967
  • UCSF Medical Center, Residency 1968
  • Yale - New Haven Hospital, Postdoctoral Fellowship 1972
  • Full Name

  • Joseph Bloomer