Severe congenital hypochromic anemia with ringed sideroblasts

Pigeon haemoproteosis caused by Haemoproteus columbae (Apicomplexa: Haemosporida: Haemoproteidae) is globally prevalent in rock doves (Columba livia), although little is known regarding this disease in pigeons and doves in Indonesia. Blood samples of 35 farmed domestic pigeons (C. livia f. domestica) from four localities in Yogyakarta Special Region, Central Java, Indonesia, were collected from March to June, 2016, subjected to a hemogram, and analyzed for the presence of hemoprotozoan infections. Microscopic examination of blood smears revealed a prevalence of 62.5–100% of H. columbae at the four localities (n = 8–10 for each locality), and geometric means of 3.0–5.6% of erythrocytes were parasitized by young and mature gametocytes, suggesting that all infected pigeons were in the chronic phase of infection with repeated recurrences and/or reinfections. Nucleotide sequencing of mitochondrial cytochrome b gene (cytb) for haemosporidian species demonstrated the distribution of four major cytb lineages of H. columbae (mainly HAECOL1, accompanied by COLIV03, COQUI05, and CXNEA02 according to the MalAvi database). Hemogram analysis, involving the estimation of packed cell volume, erythrocyte counts, mean corpuscular volume, mean corpuscular hemoglobin concentration, and plasma protein and fibrinogen levels of 20 parasitized pigeons and five non-infected pigeons demonstrated significant macrocytic hypochromic anemia with hypoproteinemia and hyperfibrinogenemia in the infected pigeons. This study shows the profound impact of long-lasting subclinical pigeon haemoproteosis caused by H. columbae on the health of farmed domestic pigeons.

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Late-onset X-linked sideroblastic anemia following hemodialysis

Blood ◽

10.1182/blood-2002-09-2804 ◽

2003 ◽

Vol 101 (11) ◽

pp. 4623-4624 ◽

Cited By ~ 21

Author(s):

Kazumichi Furuyama ◽

Hideo Harigae ◽

Chiharu Kinoshita ◽

Toshihiko Shimada ◽

Kazuko Miyaoka ◽

...

Keyword(s):

Biosynthetic Pathway ◽

Late Onset ◽

The Elderly ◽

Nutritional Deficiencies ◽

Maintenance Hemodialysis ◽

Sideroblastic Anemia ◽

Ringed Sideroblasts ◽

Aminolevulinate Synthase ◽

Deficient Activity

Abstract X-linked sideroblastic anemia (XLSA) is due to deficient activity of erythroid-specific 5-aminolevulinate synthase (ALAS2). We report here a patient who developed sideroblastic anemia at the age of 81 years while undergoing hemodialysis. The diagnosis of sideroblastic anemia was established by the presence of ringed sideroblasts in the bone marrow, and treatment with oral pyridoxine completely eliminated the ringed sideroblasts. We identified a novel point mutation in the fifth exon of this patient's ALAS2 gene, which resulted in an amino acid change at residue 159 from aspartic acid to asparagine (Asp159Asn). In vitro analyses of recombinant Asp159Asn ALAS2 revealed that this mutation accounted for the pyridoxine-responsiveness of this disease. The very late onset in this case of XLSA emphasizes that nutritional deficiencies caused either by dietary irregularities in the elderly or, as in this case, by maintenance hemodialysis therapy, may uncover occult inherited enzymatic deficiencies in the heme biosynthetic pathway.

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beta-thalassemia intermedia in a Brazilian patient with - 101(C > T) and codon 39 (C > T) mutations

Sao Paulo Medical Journal ◽

10.1590/s1516-31802003000100007 ◽

2003 ◽

Vol 121 (1) ◽

pp. 28-30

Author(s):

Sylvia Morais de Sousa ◽

Letícia Khater ◽

Luís Antônio Peroni ◽

Karine Miranda ◽

Marcelo Jun Murai ◽

...

Keyword(s):

Clinical Course ◽

Globin Gene ◽

Fetal Hemoglobin ◽

Hypochromic Anemia ◽

Beta Thalassemia ◽

Beta Globin ◽

Thalassemia Intermedia ◽

Mean Cell Volume ◽

Molecular Alterations ◽

Brazilian Patient

CONTEXT: We verified molecular alterations in a 72-year-old Brazilian male patient with a clinical course of homozygous beta-thalassemia intermedia, who had undergone splenectomy and was surviving without regular blood transfusions. The blood cell count revealed microcytic and hypochromic anemia (hemoglobin = 6.5 g/dl, mean cell volume = 74 fl, mean cell hemoglobin = 24 pg) and hemoglobin electrophoresis showed fetal hemoglobin = 1.3%, hemoglobin A2 = 6.78% and hemoglobin A = 79.4%. OBJECTIVE: To identify mutations in a patient with the symptoms of beta-thalassemia intermedia. DESIGN: Molecular inquiry into the mutations possibly responsible for the clinical picture described. SETTING: The structural molecular biology and genetic engineering center of the Universidade Estadual de Campinas, Campinas, Brazil. PROCEDURES: DNA extraction was performed on the patient's blood samples. The polymerase chain reaction (PCR) was done using five specific primers that amplified exons and the promoter region of the beta globin gene. The samples were sequenced and then analyzed via computer programs. RESULTS: Two mutations that cause the disease were found: -101 (C > T) and codon 39 (C > T). CONCLUSIONS: This case represents the first description of 101 (C > T) mutation in a Brazilian population and it is associated with a benign clinical course.

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Hemoglobin variants in southern China: results obtained during the measurement of glycated hemoglobin in a large population

Clinical Chemistry and Laboratory Medicine (CCLM) ◽

10.1515/cclm-2020-0767 ◽

2021 ◽

Vol 59 (1) ◽

pp. 227-232

Author(s):

Anping Xu ◽

Weidong Chen ◽

Weijie Xie ◽

Yajun Wang ◽

Ling Ji

Keyword(s):

High Performance ◽

Southern China ◽

Hematological Parameters ◽

Large Population ◽

Hypochromic Anemia ◽

Molecular Characteristics ◽

Inherited Disorders ◽

Hematological Analysis ◽

Hemoglobin Variants ◽

Hb Variant

AbstractObjectivesHemoglobin (Hb) variant is one of the most common monogenic inherited disorders. We aimed to explore the prevalence and hematological and molecular characteristics of Hb variants in southern China.MethodsWe collected blood samples from all patients with suspected variants found during HbA1c measurement via a cation-exchange high-performance liquid chromatography system (Bio-Rad Variant II Turbo 2.0) or a capillary electrophoresis method (Sebia Capillarys). Hematological analysis, Sanger sequencing, and gap-PCR were performed for these samples.ResultsAmong the 311,024 patients tested, we found 1,074 Hb variant carriers, including 823 identified using Capillarys and 251 using Variant II Turbo 2.0, with a total carrier rate of 0.35%. We discovered 117 types of Hb variants (52 HBB, 47 HBA, and 18 HBD mutations) containing 18 new mutations. The most common variant found was Hb E, followed by Hb New York, Hb J-Bangkok, Hb Q-Thailand, Hb G-Coushatta, Hb G-Honolulu, Hb G-Taipei, and Hb Broomhill. Most heterozygotes for the Hb variant exhibited normal hematological parameters. However, most patients with compound heterozygotes for the Hb variant and thalassemia showed varied degrees of microcytic hypochromic anemia.ConclusionsThe prevalence of hemoglobin variants remains high and exhibits genetic diversity and widespread distribution in the population of southern China.

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Presentation of a diagnostically challenging case of chronic eosinophilic leukemia with marrow dysplasia and ringed sideroblasts

SAGE Open Medical Case Reports ◽

10.1177/2050313x20957446 ◽

2020 ◽

Vol 8 ◽

pp. 2050313X2095744

Author(s):

Erica Vormittag-Nocito ◽

Irum Khan ◽

Elizabeth Wiley ◽

Frederick Behm ◽

Hongyu Ni

Keyword(s):

Myelodysplastic Syndrome ◽

Myelodysplastic Syndromes ◽

Hypereosinophilic Syndrome ◽

Ringed Sideroblasts ◽

Chronic Eosinophilic Leukemia ◽

Not Otherwise Specified

Chronic eosinophilic leukemia, not otherwise specified can be challenging to differentiate from hypereosinophilic syndrome and myelodysplastic syndromes with elevated eosinophilia. We present a diagnostically challenging case of chronic eosinophilic leukemia, not otherwise specified that initially seemed like a myelodysplastic syndrome but progressed to eosinophilic tissue infiltration and overt eosinophilic dyspoiesis. In addition, we discuss the morphologic and molecular findings that can overlap among these entities that made the diagnosis difficult in the case presented.

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HYPOCHROMIC ANEMIA AND HEMOCHROMATOSIS. RESPONSE TO COMBINED TESTOSTERONE, PYRIDOXINE, AND LIVER EXTRACT THERAPY

The American Journal of the Medical Sciences ◽

10.1097/00000441-196204000-00005 ◽

1962 ◽

Vol 243 (4) ◽

pp. 447-457 ◽

Cited By ~ 9

Author(s):

Frank H. Gardner ◽

David G. Nathan

Keyword(s):

Liver Extract ◽

Hypochromic Anemia

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STUDY OF THALASSEMIA MINOR IN THREE GENERATIONS OF AN ITALIAN FAMILY

Blood ◽

10.1182/blood.v3.4.449.449 ◽

1948 ◽

Vol 3 (4) ◽

pp. 449-456

Author(s):

ROBERT W. HEINLE ◽

MARGARET RUTH READ

Keyword(s):

Life Expectancy ◽

General Health ◽

Hypochromic Anemia ◽

Thalassemia Major ◽

Genetic Studies ◽

Italian Family ◽

Three Generations ◽

Thalassemia Minor ◽

Hypotonic Saline

Abstract 1. Three generations of a family of Italian descent were studied. Nine of 13 members were found to have thalassemia minor. 2. Genetic studies indicate that this mild, microcytic hypochromic anemia characterized by the presence of target and elliptical cells and other bizarre forms and by increased resistance to hypotonic saline, results from heterozygosity of an inherited factor, which, when homozygous, produces thalassemia major or Cooley’s Mediterranean anemia. 3. If individuals heterozygous for this factor (thalassemia minor) marry other heterozygous individuals, one quarter of the offspring can be expected to be homozygous (thalassemia major), one half heterozygous (thalassemia minor) and one quarter free of the trait. 4. The presence of thalassemia minor apparently did not interfere with the general health of affected members of this family and did not appear to shorten life expectancy. The importance of the condition lies in its relation to thalassemia major.

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