Anemia Of Unknown Cause Research Articles

A case of hemorrhagic Meckel's diverticulum diagnosed by transabdominal ultrasound.

A 23-year-old man with a history of anemia of unknown cause was referred to our hospital. He had experienced melena three times: at 6months, 10years, and 20years of age. He underwent upper and lower gastrointestinal endoscopy at 10 and 20years of age, and small intestinal capsule endoscopy twice at 20years of age, but the site of bleeding could not be identified. At first, a transabdominal ultrasound was performed for suspected Meckel's diverticulum. A cystic diverticulum was found in the ileum, with an apertural diameter of 5mm and a total size of 4cm. The cyst showed an area of loss of wall stratification, which appeared to be an ulcer scar. Based on these observations, we diagnosed anemia resulting from a hemorrhagic Meckel's diverticulum and performed laparoscopic resection. Postoperative histopathology revealed ectopic gastric mucosa and ulcer formation within the Meckel's diverticulum, which was thought to be the cause of the bleeding. Meckel's diverticulum should be considered in cases of hemorrhage in young patients. A transabdominal ultrasound as a screening test detected a diverticulum with an ulcer scar in the ileum, which led to the identification of the underlying disease.

ALPS Diagnosis: Different Phenotype in Child and Mother

Autoimmune lymphoproliferative syndrome (ALPS) is a group of genetic disorders characterized by early-onset lymphoproliferation, autoimmune cytopenias, and susceptibility to malignancy. We present two cases: mother and son with different phenotype at onset.A 7-year-old child presented with anemia, thrombocytopenia and splenomegaly. In his family history: born from non-consanguineous parents, his mother had a splenectomy due to hemolytic anemia of unknown cause. In the child, initial differential diagnosis ruled out infection or malignancy. Bone marrow aspirate had erythroid hyperplasia, giant metamyelocytes and bands and low thrombopoyesis. His immunological evaluation had hypergammaglobulinemia, elevated TCRαβ+-DNT cells (10%). ALPS was suspected and he started Prednisolone and Mycophenolate.A mutation in FAS gene was identified (exon 9, c.785T > A, p.Ile262Asn). His mother, a 45-year-old female presented with a history of lymphadenopathy. In her past medical history, she had hemolytic anemia and splenomegaly, a splenectomy was performed and the anemia resolved. Initial evaluation was started because breast cancer was suspected. Lymph node biopsy was performed where malignancy was ruled out, but unspecific inflammatory infiltrate was found. An immunological evaluation was performed. The first that was identified was the history of his son with ALPS (not specified by any other physician). Due to her history, the lymphoproliferation and anemia Sanger sequencing of her sońs mutation was performed. It revealed the same mutation and treatment was started. FAS gene with 85% frequency is the main etiological cause of genetically diagnosed patients with ALPS phenotype. The factors that determine the penetrance of clinical ALPS have not been entirely determined. Penetrance appears to be relatively associated with the location and type of the mutation and even varies in individuals carrying the same genetic mutation.

Whipple disease diagnosed by enteroscopy: first case report in Colombia of an underdiagnosed disease and literature review

BackgroundWhipple’s disease is a rare systemic disease caused by a gram-positive bacillus called Tropheryma whipplei. First described in 1907 as an intestinal lipodystrophy with histological finding of vacuoles in the macrophages of the intestinal mucous. Usually the symptoms are localized according to the compromised organ. The differential diagnosis is wide. It can be fatal without proper treatment. Recurrence can occur in up to 33% of the cases and usually compromises the neurological system.Case presentationThis article reports the case of a 46-year-old female patient with a history of a 6-month hypochromic microcytic anemia of unknown cause. She consulted for a 6-months oppressive abdominal pain located in the mesogastrium as well as abdominal distention associated with nausea and liquid stools; in addition, she had an 8-month small and medium joint pain, without edema or erythema. Physical examination without relevant findings. Multiple esophagogastroduodenoscopies with normal gastric and duodenal biopsies findings and a normal colonoscopy were performed. Endoscope capsule showed red spots in the duodenum and ulcerations in the jejunum and proximal ileum covered by fibrin; histological report showed macrophages with positive periodic acid-schiff reaction staining (PAS staining), disgnosing Whipple’s disease. Antibiotics were initiated. The patient is currently in the second phase of treatment without gastrointestinal and joint symptoms.ConclusionThis is the first case reported in Colombia. It is a rare entity and difficult to diagnose reason why it is important to continue with clinical investigations to give more clarity about the onset and appropriate diagnose to avoid the delay in treatment of this entity.

The Relationship between Nutritional Status, Anemia and Other Vitamin Deficiencies in the Elderly Receiving Home Care.

The aim of this study was to evaluate the prevalence of anemia and other vitamin deficiencies among elderly home care patients and to evaluate the causes of anemia and effect of malnutrition as a contributing factor. Anemia was defined according to the World Health Organization. Hemogram, serum iron, iron binding capacity, ferritin and transferrin saturation values, serum vitamin B12, folic acid and vitamin D levels were evaluated. It was tried to differentiate as absolute iron deficiency anemia, anemia of chronic disease, anemia of unknown cause and vitamin B12 deficiency anemia. Malnutrition was evaluated by Mini Nutritional Assessment test. Total of 472 patients (mean age 81,4±7,4 years) were included in the study. Anemia was detected in 179 (%37,9) patients, 22,7% of males and 45,5 % of female. Prevalence of iron deficiency anemia, vitamin B12, folic acid and vitamin D deficiencies were found 43%, 46%, 19% and 91% respectively. 22,8% of all patients were malnourished, 17,5% were under malnutrition risk. In patients with anemia 16,2% chronic disease anemia and 37,4% unknown anemia were detected. With or without malnutrition, iron deficiency anemia, vitamin B12 deficiency and vitamin D deficiency were common in the home care elderly patients.

Endoscopic treatment of gastrointestinal bleeding

Gastrointestinal bleeding is a clinical medical emergency and complicated etiology.The main clinical manifestations are hemoptysis, black stool, anemia of unknown cause, such as acute hemorrhage, if not promptly treated, there may be acute shock or even death.Acute gastrointestinal haemorrhage is a clinical critical disease.When the patient has active bleeding, the drug alone can not achieve the hemostatic effect.If the patient is not treated with timely and effective endoscopic therapy, their lives will be seriously threatened.Endoscopic examination can be used to diagnose and treat gastrointestinal bleeding, which is simple and convenient, with small trauma, quick effect and other advantages.With the development of endoscopic technique, the rate of operation and mortality of gastrointestinal hemorrhage decreased significantly. Key words: Gastrointestinal hemorrhage; Endoscopy; Treatment

Iron Deficiency Anaemia- A Case Report with Oral Manifestations

Iron deficiency anaemia is the most common nutritional deficiency disorder in children and is worldwide in distribution. It is characterised by fatigue, weakness, pallor and koilonychias. Thus oral physician play an important role in diagnosis and thereby prevention of anaemia, as oral manifestations may be the earliest feature of the condition. The purpose of this article is to present a case of iron deficiency anaemia of unknown cause in a 16 year old female child.

Anaemia and thyrotoxicosis: The need to look for an alternative cause.

Anaemia and thyrotoxicosis are both relatively common. It is unclear whether thyrotoxicosis results in anaemia in the absence of other causes. The aim of this study was to determine the prevalence and characteristics of anaemia in patients with thyrotoxicosis. A prospective cohort study of patients with thyrotoxicosis. 353 patients referred to a regional endocrinology centre in New Zealand from March 2013 to November 2014 for new-onset thyrotoxicosis. Detailed assessment including thyroid function tests, full blood count, inflammatory markers, haematological parameters and coeliac serology. Anaemia was defined as a haemoglobin value <115g/L (woman) or <130g/L (men). Anaemia was present in 31 (8.7%) patients at diagnosis. Of these, pre-existing anaemia was present in 10, and a further 11 had one or more identifiable underlying cause(s) for the anaemia. Only 10 patients (2.8% of the entire cohort) had anaemia not clearly attributable to another cause. Median free thyroid hormone levels were higher in those with anaemia of unknown cause compared to patients with thyrotoxicosis alone. The median duration of anaemia was shorter in patients with thyrotoxicosis-associated anaemia compared to those with anaemia due to an underlying cause (1 vs 6months, P=.001). In all patients with thyrotoxicosis-associated anaemia, the anaemia resolved, either prior to, or on becoming euthyroid. Anaemia coexisting with thyrotoxicosis is less common than previously reported and is mild and transient. Patients with thyrotoxicosis and significant anaemia should be investigated for other potential causes, particularly when anaemia persists.

Is Increased Intracellular Calcium in Red Blood Cells a Common Component in the Molecular Mechanism Causing Anemia?

For many hereditary disorders, although the underlying genetic mutation may be known, the molecular mechanism leading to hemolytic anemia is still unclear and needs further investigation. Previous studies revealed an increased intracellular Ca2+ in red blood cells (RBCs) from patients with sickle cell disease, thalassemia, or Gardos channelopathy. Therefore we analyzed RBCs' Ca2+ content from 35 patients with different types of anemia (16 patients with hereditary spherocytosis, 11 patients with hereditary xerocytosis, 5 patients with enzymopathies, and 3 patients with hemolytic anemia of unknown cause). Intracellular Ca2+ in RBCs was measured by fluorescence microscopy using the fluorescent Ca2+ indicator Fluo-4 and subsequent single cell analysis. We found that in RBCs from patients with hereditary spherocytosis and hereditary xerocytosis the intracellular Ca2+ levels were significantly increased compared to healthy control samples. For enzymopathies and hemolytic anemia of unknown cause the intracellular Ca2+ levels in RBCs were not significantly different. These results lead us to the hypothesis that increased Ca2+ levels in RBCs are a shared component in the mechanism causing an accelerated clearance of RBCs from the blood stream in channelopathies such as hereditary xerocytosis and in diseases involving defects of cytoskeletal components like hereditary spherocytosis. Future drug developments should benefit from targeting Ca2+ entry mediating molecular players leading to better therapies for patients.

Increased erythrocytic osmotic fragility in anemic domestic shorthair and purebred cats.

Increased erythrocytic osmotic fragility and splenomegaly have been reported in anemic Abyssinian and Somali cats. Here we report on this condition in anemic domestic shorthair cats and two other breeds, and describe common features of the clinicopathological profiles, management and outcomes. Anemic cats, other than Abyssinians and Somalis, were included. The erythrocytic osmotic fragility test was performed, known causes of anemia were excluded, the illness was followed and medical records were reviewed. Twelve neutered cats were first found to be anemic between 0.5 and 9.0 years of age. Pallor, lethargy, inappetence, pica, weight loss and splenomegaly were commonly observed. A moderate-to-severe macrocytic and hypochromic anemia with variable regeneration was noted. Infectious disease screening, direct Coombs' and pyruvate kinase DNA mutation test results were negative. Freshly drawn blood did not appear hemolysed but became progressively lysed during storage at 4°C. The sigmoid osmotic fragility curves were moderately to severely right shifted, indicating erythrocytic fragility at 20°C. Cross-correction studies indicated an intrinsic red cell effect rather than plasma effect. Most cats were treated with immunosuppressive doses of prednisolone and doxycycline, with variable responses. Five cats with recurrent or persistent anemia responded well to splenectomy. However, two had occasional recurrence of severe anemia: one was found to be Bartonella vinsonii-positive during one episode and responded to azithromycin and prednisolone, while the other cat had two episodes of severe anemia of unknown cause. Finally, six cats were euthanized within 1 month and 7 years after initial presentation. Histopathology of six spleens revealed mainly congestion and extramedullary hematopoiesis. Similarly to Abyssinian and Somali cats, domestic shorthair and cats of other breeds can also develop severe erythrocytic osmotic fragility with anemia and splenomegaly, which should be considered as a differential diagnosis in anemic cats.

Bone Marrow Procedures in Children Welfare Teaching Hospital/Medical City Complex Indications and results

Background: Bone marrow aspiration (BMA) and biopsy is a procedure that is used to evaluate the cause of abnormal blood test results, to confirm a diagnosis or check the status of severe anemia of unknown cause, to evaluate abnormalities in the blood's ability to store iron and also to diagnose infection.&#x0D; Objectives: To identify the main indications of bone marrow aspiration and the most common diagnoses encountered in children welfare teaching hospital.&#x0D; Patients and methods: This was a prospective and retrospective descriptive study over 6- month period from 8th of February 2010 to 8th of August 2010 in children younger than 14 years. All bone marrow aspirate results were reviewed. The clinical data provided by clinicians were also noted. General Anesthesia was used in (439) patients, and local anesthesia was used in (321) patients. The procedure done under aseptic technique, aspiration sampling was generally performed before biopsy; the site of aspirate usually from the posterior iliac crest except for those less than 12 months where the tibia was the preferable site of aspiration&#x0D; Results: There were a total of 757 performed bone marrow aspirations. The main indications for bone marrow examination were the following:256 (34%) for diagnosis and follow up of leukemia ,154 (20%) for evaluation of fever of unknown origin,95 (13%) for evaluation of hepatosplenomegaly, lymphadenopathy and\or pallor, 54 (7%) for evaluation of solid tumors , 49 (6%) for evaluation of thrombocytopenia,48 (6%) for evaluation of pancytopenia,36 (5%) for evaluation of lymphoma, 29 (4%) for suspected storage or metabolic diseases, 21(3%) for evaluation of undiagnosed masses in the abdomen, mediastinum, neck and jaw;12 (1.6%) for evaluation of unexplained anemia,3 (0.4%) for others. The most common results reported were: 312 (65%) normal BMA, 71 (14.5%) acute leukemia, 17 (3%) marrow involvement by malignancy (solid tumors, Non –Hodgkin Lymphoma), 8 (2%) megaloblastic anemia, 8 (2%) erythropoietic hyperplasia, 8 (2%) proliferation of reactive histiocytes with activehemophagocytosis, 4 (1%) kala azar.&#x0D; Conclusions: The most common indication for this procedure in this hospital was to confirm diagnosis and follow up of acute leukemia.There is high rate of negative bone marrow examination which is unnecessarily done due to lack of further diagnostic facilities, also a high rate of non- informative results which might reflect inadequate experience of doctors performing the procedure. No complications were reported.

Transient erythroblastopenia of childhood is an underdiagnosed and self‐limiting disease

Transient erythroblastopenia of childhood (TEC) is an uncommon, benign normocytic anaemia of unknown cause, characterised by reduced or absent mature erythroid precursors in otherwise normocellular bone marrow and a complete spontaneous recovery. We present epidemiological data on paediatric TEC cases in a single centre over 30 years and compare them with published data. In this retrospective study, epidemiological data on children diagnosed with TEC between 1978 and 2008 were collected and compared with published data. A total of 36 children (median age 19 months, 56% male children) were diagnosed. At presentation, median haemoglobin was 44 g/L with absolute reticulocyte count 0 × 10(9) /L; seventeen (47%) patients were neutropenic and 23 (64%) had platelet counts of more than 400 × 10(9) /L. The majority (78%) presented from 1983 to 1997, and 78% of articles reviewing 10 or more TEC patients were published between 1983 and 1992. Transient erythroblastopenia of childhood is now diagnosed less frequently in our institution than in the last two decades. Although the aetiology remains largely unknown, it is possible that changes in causative environmental factors contribute to making TEC a rare disease. Clinicians need to be aware of TEC in order to prevent unnecessary diagnostic and therapeutic measurements.

Screening colonoscopy in the initial workup of bariatric surgery patients: guidelines are needed

Cancer is one of the most common causes of death among morbidly obese individuals. Obese individuals have a well-documented increased risk of colon cancer. No guidelines are available for the workup of bariatric surgery patients in relation to colon cancer. The indications for screening colonoscopy at the Bariatric and Metabolic Institute Abu Dhabi (BMI Abu Dhabi) include all patients older than 50 years [40 years if patients are United Arab Emirates (UAE) nationals] with unexplained abdominal symptoms, anemia of unknown cause, or a family or personal history of colonic pathology. This study retrospectively reviewed the charts of all the patients who had colonoscopy during the period January 2009 to January 2013. The patients were divided into two groups: group A [patients with a body mass index (BMI) > 30 kg/m(2)] and group B (patients with a BMI < 30 kg/m(2)). The demographics and the prevalence of polyps and cancer in the two groups were compared. During the study period, 341 colonoscopies were performed: 137 for patients with a BMI higher than 30 kg/m(2) (mean age, 44 years) and 204 for patients with a BMI lower than 30 kg/m(2) (mean age, 46 years) (P > 0.05). The overall prevalence of adenomatous polyps was 6.74 % and that of cancer was 1.75 %. Further analysis showed that the prevalences of adenomatous polyps and cancer were respectively 12.4 and 2.1 % for the patients with a BMI higher than 30 kg/m(2), whereas the prevalences were respectively 2.9 and 0.9 % for the patients with BMI lower than 30 kg/m(2) (P < 0.001). The risk for the development of colonic adenomatous polyps and cancer is high among young obese individuals in the Middle East. Guidelines are needed to establish criteria for screening in this group of individuals.

Responsiveness to Parenteral Iron Therapy in Children with Oral Iron-Refractory Iron-Deficiency Anemia

Intravenous (IV) ferric iron (Fe)–carbohydrate complexes are used for treating Fe deficiency in children with iron-refractory iron-deficiency anemia (IRIDA). An optimal treatment has yet to be determined. There are relatively little publications on the responsiveness to IV iron therapy in children with IRIDA. Patients and Method: This study analyzed responses to IV iron sucrose therapy given to 11 children, ranging in age from 2 to 13 years (mean 4.8 years), with iron-deficiency anemia who were unresponsive to oral iron therapy. Results: The hemoglobin and ferritin values (mean) of the 11 children with IRIDA were 7.7 g/dL and 4.8 ng/mL at diagnosis. Both hemoglobin and ferritin levels increased to 9.5 g/dL, and 24 ng/mL, respectively, at 6 weeks after the first therapy. Although the level of hemoglobin was steady at 6 months after the first, and 6 weeks after the second therapy, the ferritin levels continued to increase up to 30 ng/mL and 47 ng/mL at 6 months after the first and 6 weeks after the second therapy, respectively. Conclusion: We recommend that IRIDA should be considered in patients presenting with iron-deficiency anemia of unknown cause that is unresponsive to oral iron therapy. Our results suggest that IV iron therapy should be administered only once in cases of IRIDA. Continued administration of IV iron would be of no benefit to increase hemoglobin levels. On the contrary, ferritin levels may continue to increase resulting in untoward effects of hyperferritinemia.

Assessment of the Red Cell Proteome of Young Patients with Unexplained Hemolytic Anemia by Two-Dimensional Differential In-Gel Electrophoresis (DIGE)

Erythrocyte cytosolic protein expression profiles of children with unexplained hemolytic anemia were compared with profiles of close relatives and controls by two-dimensional differential in-gel electrophoresis (2D-DIGE). The severity of anemia in the patients varied from compensated (i.e., no medical intervention required) to chronic transfusion dependence. Common characteristics of all patients included chronic elevation of reticulocyte count and a negative workup for anemia focusing on hemoglobinopathies, morphologic abnormalities that would suggest a membrane defect, immune-mediated red cell destruction, and evaluation of the most common red cell enzyme defects, glucose-6-phosphate dehydrogenase and pyruvate kinase deficiency. Based upon this initial workup and presentation during infancy or early childhood, four patients classified as hereditary nonspherocytic hemolytic anemia (HNSHA) of unknown etiology were selected for proteomic analysis. DIGE analysis of red cell cytosolic proteins clearly discriminated each anemic patient from both familial and unrelated controls, revealing both patient-specific and shared patterns of differential protein expression. Changes in expression pattern shared among the four patients were identified in several protein classes including chaperons, cytoskeletal and proteasome proteins. Elevated expression in patient samples of some proteins correlated with high reticulocyte count, likely identifying a subset of proteins that are normally lost during erythroid maturation, including proteins involved in mitochondrial metabolism and protein synthesis. Proteins identified with patient-specific decreased expression included components of the glutathione synthetic pathway, antioxidant pathways, and proteins involved in signal transduction and nucleotide metabolism. Among the more than 200 proteins identified in this study are 21 proteins not previously described as part of the erythrocyte proteome. These results demonstrate the feasibility of applying a global proteomic approach to aid characterization of red cells from patients with hereditary anemia of unknown cause, including the identification of differentially expressed proteins as potential candidates with a role in disease pathogenesis.

Su1558 Clinical Characteristics of Angiectasia of the Colon: Case-Control Analysis

Su1558 Clinical Characteristics of Angiectasia of the Colon: Case-Control Analysis Yusuke Sekino, Hiroshi Iida, Yasunari Sakamoto, Takashi Nonaka, Eiji Sakai, Takashi Uchiyama, Kunihiro Hosono, Hiroki Endo, Koji Fujita, Tomoko Koide, Masato Yoneda, Hirokazu Takahashi, Chikako Tokoro, Yasunobu Abe, Hiroyuki Kirikoshi, Noritoshi Kobayashi, Kensuke Kubota, Satoru Saito, Atsushi Nakajima, Shin Maeda, Masahiko Inamori Gastroenterology Division, Yokohama City University School of Medicine, Yokohama, Japan Background: Angiectasia is one of the most common lesions found in the gastrointestinal tract. With the development and widespread performance of colonoscopy, angiectasia of colon has received attention in recent years as a cause of gastrointestinal bleeding. The aim of this study was to determine whether there are risk estimates of angiectasia of colon, bleeding and rebleeding from angiectasia of colon using case-control analysis. Methods: We collected the data of all patients who underwent colonoscopy at our hospital between January 2008 and November 2010, including 90 patients who were diagnosed as having angiectasia of the colon and 5775 patients without angiectasia of the colon. For the case-control analysis, we comparatively analyzed the predictors of the presence of angiectasia and the risk of bleeding and re-bleeding between the 90 individuals with angiectasia and 180 individuals without angiectasia, as controls, after adjustments for sex and age. Results: Ninety patients (58 males and 32 females; median age, 69 years; age range, 26-92 years) who underwent colonoscopy at our hospital between January 2008 and November 2010 were diagnosed as having angiectasia of the colon. Four patients had pulmonary disease, 18 patients had cardiovascular disease (including 7 with valvular heart disease, 11 with ischemic heart disease and 6 with chronic heart failure), 15 patients had liver cirrhosis, 20 patients had diabetes mellitus, and 11 patients had chronic renal failure. Twenty patients were receiving antiplatelet therapy or anticoagulant therapy, and 2 patients were receiving steroid therapy. According to the results of a multivariate analysis, cardiovascular disease (odds ratio (OR), 3.369; 95% confidence interval (CI), 1.081-10.504; p value, 0.0363), liver cirrhosis (OR, 12.786; 95% CI, 3.434-47.609; p value, 0.0001) and chronic renal failure (OR, 7.137; 95% CI, 1.742-29.243; p value, 0.0063) were identified as significant predictors of the presence of angiectasia in the colon. Only cardiovascular disease was identified as a significant risk factor for active bleeding from the colonic angiectasia (p-value was 0.0478) (Table 1). Conclusions: From this case-control analysis of angiectasia of colon, it was found that patients with liver cirrhosis (3.1% of the individuals who underwent colonoscopy) were at an approximately 13-fold higher risk, patients with chronic renal failure (2.0%) were at a 7-fold higher risk, and patients with cardiovascular disease (6.8%) were at a 3.4-fold higher risk of angiectasia of the colon as compared to control individuals. In cases of anemia of unknown cause or occult gastrointestinal bleeding, careful consideration must be given to colonoscopic observation, especially in patients with liver cirrhosis, chronic renal failure or cardiovascular disease.

Extramedullary hematopoiesis presented as solitary renal mass: A case report with review of literature

In this article, we described a case of extramedullary hematopoiesis (EMH) in a 12-year-old boy with the clinical and hematological features of hemolytic anemia of unknown cause. The patient presented with a solitary well circumscribed mass in right kidney. Ultrasound guided fine-needle aspiration cytology showed myelocytes, metamyelocytes, megakaryocytes, and immature erythroid cells. A cytological diagnosis of EMH was made.

Cholangiocarcinoma presenting as hemobilia and recurrent iron-deficiency anemia: a case report

IntroductionIron-deficiency anemia is a relatively common presenting feature of several gastrointestinal malignancies. However, cholangiocarcinoma has rarely been reported as an underlying cause. The association of cholangiocarcinoma with the rare clinical finding of hemobilia is also highly unusual. To our knowledge, this is the first case report of cholangiocarcinoma presenting with acute hemobilia and chronic iron-deficiency anemia.Case presentationWe report the case of a Caucasian, 84-year-old woman presenting with recurrent, severe iron-deficiency anemia who was eventually diagnosed with intra-hepatic cholangiocarcinoma, following an acute episode of hemobilia. A right hepatectomy was subsequently performed with curative intent, and our patient has now fully recovered.ConclusionThis is a rare example of hemobilia and chronic iron-deficiency anemia in association with cholangiocarcinoma. We suggest that a diagnosis of cholangiocarcinoma should be considered in patients who present with iron-deficiency anemia of unknown cause, particularly in the presence of abnormal liver function.

OP09.04: Fetal anemia of unknown cause - a challenge for the prenatal diagnostician

OP09.04: Fetal anemia of unknown cause - a challenge for the prenatal diagnostician

Severe intrauterine anemia: a new form of thalassemia presenting in utero in a Norwegian family

Severe intrauterine anemia of unknown cause presents a diagnostic challenge. We describe a Norwegian case, managed successfully by intrauterine transfusions, that further investigations demonstrated to be due to a rare type of thalassemia. A deletion of the 5' end of the beta globin gene cluster was characterized, the breakpoints sequenced and a new type of epsilongammagammadeltabeta thalassemia identified. This case highlights the need to consider diagnoses of rare conditions not normally associated with a particular population.

Can Heliobacter pylori Infection without Erosions or Ulcer Cause Anemia?

Purpose:H. pylori infection has been associated with anemia, however, it is not well understood whether H. pylori can cause anemia without evidence of gastric erosion/ulcer. We set out to determine whether H. pylori infection without endoscopic mucosal lesions can cause microcytic anemia. Methods: Pathology database was queried and all consecutive patients who had H. pylori infection on their gastric biopsies between Jan. 2007 and April 2008 were identified. Laboratory database was queried for CBC result and then medical charts of those patients who had CBC result within 120 days of their EGD were reviewed to look for anemia and potential causes of anemia. Results: We identified a total of 306 consecutive patients who had H. pylori infection in their gastric biopsies. One hundred thirty-seven patients were excluded (no recent CBC, N = 124; hematological causes for anemia, N = 13). Eighty one of the remaining 169 patients with H. pylori (48%) had anemia –30/51 (59%) males and 51/118 (43%) females. There was no cause of anemia in 21 of the 81 anemic subjects. Thus, 21/169 (12.4%) of anemic patients with H. pylori infection [ages 33 to 78] had anemia of unknown etiology. Conclusion: Our data suggests that H. pylori infection without endoscopic mucosal breakdown can be associated with anemia. Thus, routine gastric biopsy may be warranted when EGD is done as part of the investigation of anemia. Further prospective studies are needed to validate our retrospective study and determine the cost-effectiveness of routine gastric biopsy in patients with anemia of unknown cause.