RESUMO
Macrocytic anemia is divided into megaloblastic and nonmegaloblastic causes, with the former being more common. Megaloblastic anemia results from impaired DNA synthesis, leading to release of megaloblasts, which are large nucleated red blood cell precursors with chromatin that is not condensed. Vitamin B12 deficiency is the most common cause for megaloblastic anemia, although folate deficiency also can contribute. Nonmegaloblastic anemia entails normal DNA synthesis and typically is caused by chronic liver dysfunction, hypothyroidism, alcohol use disorder, or myelodysplastic disorders. Macrocytosis also can result from release of reticulocytes in the normal physiologic response to acute anemia. Management of macrocytic anemia is specific to the etiology identified through testing and patient evaluation.
Assuntos
Alcoolismo , Anemia Macrocítica , Anemia Megaloblástica , Anemia , Humanos , Anemia Macrocítica/diagnóstico , Anemia Macrocítica/terapia , Anemia/etiologia , Anemia/terapia , Anemia Megaloblástica/diagnóstico , Anemia Megaloblástica/terapia , DNARESUMO
We diagnosed a 13-month-old girl with severe neurological deficits and hyporegenerative macrocytic anemiawith Brown-Vialetto-Van Laere syndrome type 2 (BVVL 2), a rare disorder of the riboflavin transporter, caused by variants in the SLC52A2 gene. Bone marrow aspiration revealed hypoplastic erythropoiesis and vacuolization of myelocytes, proerythroblasts, and micromegakaryocytes. We suggest BVVL 2 as an important differential diagnosis in hyporegenerative macrocytic anemia as rapid diagnosis and initiation of therapy are crucial for the remedy of hematological and neurological impairment.
Assuntos
Anemia Macrocítica , Paralisia Bulbar Progressiva , Perda Auditiva Neurossensorial , Anemia Macrocítica/diagnóstico , Anemia Macrocítica/genética , Paralisia Bulbar Progressiva/etiologia , Paralisia Bulbar Progressiva/genética , Feminino , Perda Auditiva Neurossensorial/genética , Humanos , Lactente , RiboflavinaRESUMO
Atypical Behçet's is recognised in myelodysplastic syndrome (MDS) cases and is associated with trisomy 8. Clonal cytopenia of undetermined significance (CCUS) is recognised as a precursor to MDS. Our case describes the presentation of atypical Behçet's, in association with CCUS, post a Streptococcal infection. A mutation of a zinc finger RNA spliceosome, ZRSR2, is also described. Our patient initially presented with macrocytic anaemia, together with neutropenia and lymphocytopenia on routine monitoring. Later gastrointestinal symptoms together with oral and anal ulcerations developed. He was treated with oral zinc therapy and had resolution of recurrent oral ulcerations and significant reduction in severity of anal ulcerations. The functional impact of ZRSR2 mutation on spliceosome assembly is yet to be defined, but has been previously reported in CCUS with a clinical phenotype of macrocytic anaemia.
Assuntos
Anemia Macrocítica , Síndrome de Behçet , Síndromes Mielodisplásicas , Anemia Macrocítica/diagnóstico , Anemia Macrocítica/tratamento farmacológico , Anemia Macrocítica/genética , Síndrome de Behçet/complicações , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/tratamento farmacológico , Hematopoiese Clonal , Humanos , Masculino , Síndromes Mielodisplásicas/complicações , Síndromes Mielodisplásicas/diagnóstico , Síndromes Mielodisplásicas/tratamento farmacológico , Zinco/uso terapêuticoAssuntos
Anemia Macrocítica , Citometria de Fluxo , Síndromes Mielodisplásicas , Idoso , Idoso de 80 Anos ou mais , Anemia Macrocítica/sangue , Anemia Macrocítica/diagnóstico , Diagnóstico Diferencial , Feminino , Citometria de Fluxo/instrumentação , Citometria de Fluxo/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/sangue , Síndromes Mielodisplásicas/diagnósticoRESUMO
OBJECTIVE: Patients with warm autoimmune hemolytic anemia (WAIHA) present with anemia that is highly heterogeneous, and often have macrocytic anemia with inappropriately elevated mean corpuscular volume (MCV). The goal of this retrospectivecase study is to elucidate the characteristics of anemia in patients with idiopathic WAIHA. PROCEDURES: The hematological parameters were analyzed by automated hematology analyzers in 19 consecutive patients with idiopathic WAIHA. Thecontent of hemoglobin (Hb) in the reticulocytes was assessed as reticulocyte Hb equivalent (RET-He). Relevant laboratory data and medical records were retrospectively studied. RESULTS: The median MCV was 102.7 fL and ten patients had macrocytic anemia with MCV above 100 fL. There was a significant correlation between the percentage of reticulocytes and MCV. The median RET-He value was 35.9 pg, and the reticulocytes of patients with higher MCV had higher RET-He. There was a significant correlation between red cell volume distribution width (RDW) andMCV, while the association between RDW and RET-He was not significant. Red blood cell agglutination was not seen in any of the patients. Relative folate deficiency was implied to contribute to the increased Hb content in the reticulocytes of WAIHA patients. CONCLUSION: Reticulocytes in WAIHA patients often contain more Hb than normal reticulocytes and become inappropriately large, possibly due to relative folate deficiency. Elevated MCV in WAIHA patients is due to the increase in both the number and the Hb content of reticulocytes.
Assuntos
Anemia Hemolítica Autoimune/metabolismo , Anemia Macrocítica/diagnóstico , Reticulócitos/química , Adulto , Idoso , Idoso de 80 Anos ou mais , Anemia/diagnóstico , Anemia Hemolítica Autoimune/fisiopatologia , Anemia Macrocítica/metabolismo , Índices de Eritrócitos/fisiologia , Feminino , Hemoglobinas/análise , Hemoglobinas/química , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosAssuntos
Artrite , Perda Auditiva Neurossensorial , Doenças Hereditárias Autoinflamatórias , Síndromes Mielodisplásicas/diagnóstico , Esclerite , Enzimas Ativadoras de Ubiquitina/genética , Proteínas de Fase Aguda/análise , Anemia Macrocítica/diagnóstico , Anemia Macrocítica/etiologia , Artrite/diagnóstico , Artrite/etiologia , Diagnóstico Diferencial , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/etiologia , Doenças Hereditárias Autoinflamatórias/sangue , Doenças Hereditárias Autoinflamatórias/diagnóstico , Doenças Hereditárias Autoinflamatórias/genética , Doenças Hereditárias Autoinflamatórias/fisiopatologia , Humanos , Pessoa de Meia-Idade , Mutação , Células Progenitoras Mieloides/patologia , Esclerite/diagnóstico , Esclerite/etiologia , Avaliação de Sintomas , VacúolosAssuntos
Artrite/etiologia , Doenças Hereditárias Autoinflamatórias/complicações , Doenças Hereditárias Autoinflamatórias/diagnóstico , Idoso , Anemia Macrocítica/diagnóstico , Exame de Medula Óssea , Doenças das Cartilagens/diagnóstico , Genes Ligados ao Cromossomo X , Doenças Hereditárias Autoinflamatórias/genética , Humanos , Masculino , Dermatopatias/diagnóstico , Síndrome , Enzimas Ativadoras de Ubiquitina/genética , Tromboembolia Venosa/diagnósticoAssuntos
Anemia Macrocítica/diagnóstico , Doenças Hereditárias Autoinflamatórias/diagnóstico , Linfadenite Histiocítica Necrosante/diagnóstico , Policondrite Recidivante/diagnóstico , Tromboembolia Venosa/diagnóstico , Idoso , Anemia Macrocítica/tratamento farmacológico , Diagnóstico Diferencial , Doenças Hereditárias Autoinflamatórias/tratamento farmacológico , Linfadenite Histiocítica Necrosante/tratamento farmacológico , Humanos , Masculino , Policondrite Recidivante/tratamento farmacológico , Tromboembolia Venosa/tratamento farmacológicoRESUMO
OBJECTIVE: We present prenatal diagnosis of concomitant distal 5q duplication and terminal 10q deletion in a fetus with intrauterine growth restriction (IUGR), congenital diaphragmatic hernia (CDH) and congenital heart defects (CHD). CASE REPORT: A 34-year-old, gravida 4, para 2, woman was referred for amniocentesis at 21 weeks of gestation because of advanced maternal age and IUGR. There was no congenital malformation in the family. Amniocentesis revealed a derivative chromosome 10 with an additional maternal on the terminal region of 10q. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from the cultured amniocytes revealed a result of arr 5q31.3q35.5 (142, 548, 354-180,696,806) × 3.0, arr 10q26.3 (132, 932, 808-135,434,178) × 1.0 [GRCh37 (hg19)] with a 2.50-Mb deletion of 10q26.3 encompassing 19 [Online Mendelian Inheritance in Man (OMIM)] genes and a 38.15-Mb duplication of 5q31.3-q35.5 encompassing 195 OMIM genes including four CDH candidate genes of NDST1, ADAM19, NSD1 and MAML1. The mother was found to have a karyotype of 46,XX,t(5; 10) (q31.3; q26.3). Therefore, the fetal karyotype was 46,XX,der(10)t(5; 10)(q31.3; q26.3)mat. Prenatal ultrasound showed IUGR, right CDH, transposition of great artery, double outlet of right ventricle and right atrial isomerism. The pregnancy was terminated, and a malformed fetus was delivered with facial dysmorphism. CONCLUSION: Fetuses with concomitant distal 5q duplication and terminal 10q deletion may present IUGR, CDH and CHD on prenatal ultrasound.
Assuntos
Anemia Macrocítica/diagnóstico , Retardo do Crescimento Fetal/diagnóstico , Cardiopatias Congênitas/diagnóstico , Hérnias Diafragmáticas Congênitas/diagnóstico , Monossomia/diagnóstico , Adulto , Amniocentese , Anemia Macrocítica/embriologia , Anemia Macrocítica/genética , Deleção Cromossômica , Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 5/genética , Hibridização Genômica Comparativa , Feminino , Retardo do Crescimento Fetal/genética , Cardiopatias Congênitas/embriologia , Cardiopatias Congênitas/genética , Hérnias Diafragmáticas Congênitas/embriologia , Hérnias Diafragmáticas Congênitas/genética , Humanos , Monossomia/genética , GravidezRESUMO
No disponible
Assuntos
Humanos , Feminino , Idoso , Síndrome de Sweet/complicações , Síndromes Mielodisplásicas/complicações , Anemia Macrocítica/diagnóstico , Síndrome de Sweet/tratamento farmacológico , Síndrome de Sweet/patologia , Síndromes Mielodisplásicas/tratamento farmacológico , Síndromes Mielodisplásicas/patologia , Pé/patologia , Anemia Macrocítica/complicações , Biópsia , Células da Medula Óssea/citologia , Células da Medula Óssea/patologiaRESUMO
BACKGROUND: Anemia is a common finding and important cause of morbidity in patients with acute lymphoblastic leukemia (ALL) at diagnosis or during the course of its protracted treatment. We studied profile of anemia in ALL patients on maintenance therapy and evaluated specific micronutrients as cause of this anemia. PATIENTS AND METHODS: ALL patients who were on maintenance therapy and had grade ≥ 2 anemia were recruited for the study. Serum iron studies, folate, and vitamin B12 were done to identify micronutrient deficiency and to initiate supplementation with specific components if found to be deficient. Toxicities, improvement of anemia, micronutrient levels, and disease outcome were studied after 3 months. RESULTS: From March 2015 to September 2016, 105 ALL patients were found to be on maintenance fulfilling the inclusion criteria. Overall, the proportion of anemia was 80%(N = 84). Majority had normocytic normochromic anemia (71%). Macrocytic anemia was seen in 18% and microcytic hypochromic in 9.5%. In patients with anemia of grade ≥ 2 (N = 84), 38 patients (45%) had biochemical deficiency of serum folate, and 7 (8%) had vitamin B12 deficiency. No biochemical evidence of iron deficiency was found. Supplementation of deficient micronutrients improved anemia: mean hemoglobin significantly increased from 8.06 ± 1.63 to 10.78 ± 1.53 (p < 0.001) at 3 months; and reduced treatment toxicities, mean number of febrile neutropenia episodes (p = 0.007), and treatment interruptions of > 2 weeks (p = 0.002) were lowered. Patients with anemia had significantly more relapses (N = 14,64%) compared to patients without anemia (N = 8,36%), (p = 0.040). CONCLUSION: Timely identification and correction of micronutrient deficiencies causing anemia in ALL patients on maintenance can enhance treatment outcomes.
Assuntos
Anemia Macrocítica/diagnóstico , Anemia Macrocítica/terapia , Suplementos Nutricionais , Micronutrientes/uso terapêutico , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Ácido Fólico/uso terapêutico , Hemoglobinas/análise , Humanos , Lactente , Deficiências de Ferro , Masculino , Micronutrientes/administração & dosagem , Pessoa de Meia-Idade , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Estudos Prospectivos , Vitamina B 12/uso terapêutico , Deficiência de Vitamina B 12/terapia , Adulto JovemRESUMO
We report here the case of a 62-year-old patient with Child-Pugh stage C ethylic cirrhosis associated with severe macrocytic anaemia, refractory to iterative transfusions and withdrawal. After a haemorrhagic, deficiency-related, or sideroblastic etiology was ruled out, haemolytic anaemia was suspected. A blood smear allowed diagnosis of haemolytic anaemia with acanthocytes. This offers the opportunity to discuss anaemia in patients with alcoholic cirrhosis, a frequent complication spanning a broad severity range and having the potential to be life-threatening. Its origin can be multifactorial : acute haemorrhage, dilution, haemolysis (here due to acanthocytosis), marrow insufficiency caused by direct alcohol toxicity, malnutrition, iron deficiency, vitamin B9 or B12 deficiency, chronic inflammation, splenic sequestration induced by portal hypertension...
Nous rapportons le cas d'une patiente de 62 ans atteinte d'une cirrhose éthylique de stade Child-Pugh C associée à une anémie macrocytaire sévère, réfractaire aux transfusions itératives et au sevrage. Après avoir exclu les étiologies hémorragiques, carentielles et sidéroblastiques, une anémie hémolytique (AH) est suspectée. La réalisation d'un frottis sanguin a permis le diagnostic d'une anémie hémolytique à acanthocytes. L'opportunité nous est donnée de discuter de l'anémie chez le patient cirrhotique alcoolique, complication fréquente recouvrant un large spectre de gravité et pouvant menacer la survie. Elle peut être multifactorielle : hémorragie aiguë, dilution, hémolyse (dans le cas particulier, liée à une acanthocytose), insuffisance médullaire par toxicité directe de l'alcool, malnutrition, carence martiale, déficit en vitamine B9 ou B12, inflammation chronique, séquestration splénique induite par l'hypertension portale .
Assuntos
Anemia Hemolítica , Anemia Macrocítica , Cirrose Hepática Alcoólica , Acantócitos , Anemia Hemolítica/complicações , Anemia Hemolítica/diagnóstico , Anemia Macrocítica/complicações , Anemia Macrocítica/diagnóstico , Transfusão de Sangue , Diagnóstico Diferencial , Humanos , Cirrose Hepática Alcoólica/complicações , Cirrose Hepática Alcoólica/diagnóstico , Pessoa de Meia-IdadeRESUMO
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Assuntos
Anemia Ferropriva/etiologia , Anemia Macrocítica/etiologia , Doenças do Ceco/complicações , Cirrose Hepática Alcoólica/complicações , Malacoplasia/complicações , Anemia Ferropriva/diagnóstico , Anemia Macrocítica/diagnóstico , Doenças do Ceco/diagnóstico por imagem , Doenças do Ceco/cirurgia , Varizes Esofágicas e Gástricas/diagnóstico , Varizes Esofágicas e Gástricas/etiologia , Hemorragia Gastrointestinal/diagnóstico , Hemorragia Gastrointestinal/etiologia , Humanos , Cirrose Hepática Alcoólica/diagnóstico , Malacoplasia/diagnóstico , Malacoplasia/cirurgia , Masculino , Pessoa de Meia-Idade , Resultado do TratamentoAssuntos
Anemia Macrocítica/etiologia , Doença Celíaca/diagnóstico , Cobre/deficiência , Anemia Macrocítica/diagnóstico , Doença Celíaca/complicações , Doença Celíaca/dietoterapia , Cobre/administração & dosagem , Deficiências Nutricionais/diagnóstico , Deficiências Nutricionais/etiologia , Diagnóstico Diferencial , Dieta Livre de Glúten , Duodeno/patologia , Dispneia/etiologia , Endoscopia do Sistema Digestório , Fadiga/etiologia , Feminino , Humanos , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/diagnóstico , Neutrófilos/patologiaRESUMO
A retrospective study was conducted over seven years and it aimed to find out various causes of anemia among patients with chronic kidney disease (CKD). The study included nondialysis-dependent adult CKD patients who underwent anemia evaluation. A total of 584 patients were studied. Three hundred and twenty-one (55%) patients were male and 263 (45%) were female. The mean age of the patients was 55.5 ± 14 years. One hundred and seventy-eight (30.5%) had a diabetic CKD and 406 (69.5%) had a nondiabetic CKD. Seventy-two (12.3%) patients were in CKD Stage 3, 193 (33%) patients in CKD Stage 4, and 319 (54.6%) patients in CKD Stage 5. The mean hemoglobin was 9.2 ± 2.2 g/dL. There was a progressive fall in hemoglobin with increasing severity of CKD and in CKD Stage 3, 4, and 5 the mean hemoglobin was 10 ± 2.2, 9.4 ± 2.1, and 8.4 ± 1.9 g/dL, respectively (P = 0.001). Most (47.4%) patients had moderate anemia followed by anemia of mild (31.4%) and severe (21.4%) degrees. Three hundred and seven (52.6%) patients had percent transferrin saturation (TSAT) <20% (functional iron deficiency). One hundred and sixty-two (27.7%) patients had serum ferritin <100 ng/mL (absolute iron deficiency); 334 (57.2%) patients had serum ferritin 100-500 ng/mL, but in 175 (52.4%) of them, TSAT was <20%; 88 (15.1%) patients had serum ferritin >500 ng/mL (58 (65.6%) were C-reactive protein (CRP) + and 55 (62.5%) had TSAT <20%). Overall, 392 (67.1%) patients had functional or absolute iron deficiency. One-third of the patients had elevated CRP levels. The anemia was macrocytic in 20.4% suggesting deficiency of folic acid and/or Vitamin B12. A high proportion (74.6%) of patients with normocytic anemia had iron deficiency. In the majority of nondialysis-dependent CKD patients, the etiology of anemia may be multifactorial; therefore, the treatment should be determined by documented causes of anemia.