Lead Poisoning Induced Severe Hemolytic Anemia, Basophilic Stippling, Mimicking Erythrocyte Pyrimidine 5'-nucleotidase Deficiency in Beta Thalassemia Minor

Beta-thalassemia intermedia exhibits feature of ineffective erythropoiesis and hemolytic anemia. Diagnosis can be made via hemoglobin electrophoresis. G6PD deficiency is an X-linked recessive disorder commonly affecting males while females are carrier. Diagnosis is made by measuring G6PD level. A 19-year old pregnant lady, known case of β-thalassemia intermedia, had been presented with episode of acute hemolytic anemia. Investigations were highly suggestive of G6PD deficient anemia. This was confirmed with low G6PD level. Back to her immediate history, consumption of broad bean was ascertained. After appropriate therapy, the patient felt better and her medical derangement was normalized. She delivered normally and kept on life-long folic acid therapy. The importance of recording such a case report is to expect unusual combination of hemolytic anemia despite the uncommon finding of X-linked recessive disorder in women. This was the first case recorded in Karbala province

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Autoimmune Hepatitis–Primary Biliary Cholangitis Overlap Syndrome Triggered by COVID-19

European Journal of Case Reports in Internal Medicine ◽

10.12890/2021_002264 ◽

2021 ◽

Author(s):

Balraj Singh ◽

Parminder Kaur ◽

Michael Maroules

Keyword(s):

Autoimmune Hepatitis ◽

Multiple Organ ◽

Overlap Syndrome ◽

Beta Thalassemia ◽

Primary Biliary Cholangitis ◽

Smooth Muscle Antibody ◽

Elevated Liver Enzymes ◽

Thalassemia Minor ◽

Wide Range ◽

Mitochondrial Antibody

COVID-19, caused by severe acute respiratory syndrome coronavirus 2 infection, has caused the ongoing global pandemic. Initially considered a respiratory disease, it can manifest with a wide range of complications (gastrointestinal, neurological, thromboembolic and cardiovascular) leading to multiple organ dysfunction. A range of immune complications have also been described. We report the case of a 57-year-old man with a medical history of hypertension, prediabetes and beta thalassemia minor, who was diagnosed with COVID-19 and subsequently developed fatigue and arthralgias, and whose blood work showed hyperferritinemia, elevated liver enzymes (AST/ALT/GGT), hypergammaglobulinemia, anti-smooth muscle antibody, anti-mitochondrial antibody, and anti-double-stranded DNA antibodies. The patient was diagnosed with autoimmune hepatitis–primary biliary cholangitis overlap syndrome triggered by COVID-19. To our knowledge, this is the first such case reported.

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The inactive beta globin gene on a gamma delta beta thalassemia chromosome has a normal structure and functions normally in vitro

Blood ◽

10.1182/blood.v71.3.766.bloodjournal713766 ◽

1988 ◽

Vol 71 (3) ◽

pp. 766-770

Author(s):

PT Curtin ◽

YW Kan

Keyword(s):

Globin Gene ◽

Large Deletion ◽

Beta Thalassemia ◽

Ribonuclease Protection Assay ◽

Beta Globin ◽

Gamma Delta ◽

Beta Globin Gene ◽

Thalassemia Minor

We have previously described an English family with gamma delta beta- thalassemia in which a large deletion stops 25 kilobases (kb) upstream from the beta-globin gene locus, and yet the beta-globin gene is inactive in vivo. Affected family members had a beta-thalassemia minor phenotype with a normal hemoglobin A2 level. Gene mapping showed that these subjects were heterozygous for a chromosome bearing a large deletion that began in the G gamma-globin gene, extended through the epsilon-globin gene, and continued upstream for at least 75 kb. The A gamma-, delta-, and beta-globin gene loci on this chromosome were intact. To examine the possibility that an additional defect was present in the beta-globin gene, we cloned, sequenced, and examined the expression of the beta-globin gene from the affected chromosome. No mutation was found in the beta-globin gene sequence from 990 base-pairs 5′ to the cap site to 350 basepairs 3′ to the polyadenylation signal. The gene was subcloned into an expression vector and introduced into HeLa cells. Analysis of RNA derived from these cells, using a ribonuclease protection assay, revealed qualitatively and quantitatively normal transcription. Thus a structurally and functionally normal beta-globin gene is inactive in the presence of a large deletion more than 25 kb upstream. The loss of beta-globin gene function may be due to disturbance of chromatin conformation caused by the deletion or may be the result of loss of upstream sequences that are necessary for beta-globin gene expression in vivo.

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Current Perspective of Beta Thalassemia and Its Treatment Strategies

10.20944/preprints201907.0277.v1 ◽

2019 ◽

Author(s):

Shaukat Ali ◽

Shumaila Mumtaz ◽

Hafiz Abdullah Shakir ◽

Hafiz Muhammad Tahir ◽

Tafail Akbar Mughal

Keyword(s):

Genetic Testing ◽

Blood Transfusion ◽

Dna Analysis ◽

Complete Blood Count ◽

Globin Gene ◽

Thalassemia Major ◽

Beta Thalassemia ◽

Beta Globin ◽

Hematopoietic Stem ◽

Thalassemia Minor

Thalassemia is genetic blood disease cause by absence or decrease of one or more of the globin chain synthesis. Beta thalassemia is characterized by one or more mutations in beta globin gene. Absence or reduced amount the of beta globin chains cause ineffective erythropoiesis which leads to anemia. Beta thalassemia has been further divided into three main forms: Thalassemia minor/silent carrier, major and intermedia. More severe form is thalassemia major in which patients depend upon blood transfusion for survival and high level of iron occur as a consequence of consistent blood transfusion. Over loaded iron invokes the synthesis of reactive oxygen species that are toxic in redundancy and triggering the impairment to vascular, endocrine and hepatic system. Thalassemia can be diagnosed and detected through various laboratory tests such as blood smear, prenatal testing (genetic testing of amniotic fluid), DNA analysis (genetic testing) and complete blood count. Treatment of thalassemia intermedia is symptomatic but it can also be managed by splenectomy and folic supplementation. While thalassemia major can be treated by transplantation of bone marrow, regular transfusion of blood and iron chelation treatment, stimulation of fetal hemoglobin production, hematopoietic stem cell transplantation and gene therapy.

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Globin Chain Synthesis in the Marrow and Reticulocytes of Beta Thalassemia, Hemoglobin H Disease, and Beta Delta Thalassemia

Blood ◽

10.1182/blood.v40.1.105.105 ◽

1972 ◽

Vol 40 (1) ◽

pp. 105-111 ◽

Cited By ~ 18

Author(s):

Mordechai Shchory ◽

Bracha Ramot

Keyword(s):

Bone Marrow ◽

Thalassemia Major ◽

Beta Thalassemia ◽

Globin Chain ◽

Thalassemia Intermedia ◽

Thalassemia Minor ◽

Order Of Magnitude ◽

Hb H Disease ◽

Chain Synthesis ◽

Globin Chain Synthesis

Abstract α, β, and γ globin chain synthesis in bone marrow and peripheral blood reticulocytes were studied in two patients with thalassemia major, two with thalassemia intermedia, one with thalassemia minor, one with Hb H disease, and one with homozygous βδ-thalassemia. Nine nonthalassemic patients served as controls. In thalassemia major, a marked imbalance of α- to β-chain synthesis was found in the bone marrow as well as in reticulocytes. The imbalance, however, was slightly more evident in the latter. In the patients with thalassemia intermedia and minor the α- to β-globin chain ratios in the reticulocytes were of the same order of magnitude, despite the marked clinical differences between thalassemia intermedia and minor. A balanced synthesis was found in the bone marrow of the patient with thalassemia minor. The bone marrow globin synthesis in thalassemia intermedia was not studied. Contrary to that in Hb H disease and βδ-thalassemia, the imbalance was more apparent in the bone marrow. In the latter, no evidence for imbalance was detected in the reticulocytes. These results point out the need for further studies on globin chain synthesis in the bone marrow and reticulocytes of patients With the various thalassemia syndromes and the effect of the free globin chain pool on those results.

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