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Anemia (Microcytic)
Published in Charles Theisler, Adjuvant Medical Care, 2023
Vitamin B6 deficiency induced in infants is associated with a hypochromic microcytic anemia. A malnourished patient with a hypochromic anemia who failed to respond to iron therapy but subsequently responded to the administration of vitamin B6 has also been described. Occasionally, patients receiving therapy with antituberculosis agents, such as isoniazid, which interfere with vitamin B6 metabolism, develop a microcytic anemia that can be corrected with large doses of pyridoxine. Some patients with sideroblastic anemias (see Chap. 64) respond to the administration of pyridoxine even though these patients are not deficient in this vitamin.1
The Ferrochelatase Deficiency (Fechm1Pas) Mutation, Chromosome 18
Published in John P. Sundberg, Handbook of Mouse Mutations with Skin and Hair Abnormalities, 2020
In humans, erythropoietic protoporphyria (EPP) is associated with reduced activity of ferrochelatase.2,5 The disease is characterized by cutaneous photosensitivity. A mild microcytic, hypochromic anemia is observed in a minority of cases. Fatalities from rapidly progressive liver disease have been reported in at least 20 patients,2,6 which is an indication for liver transplantation.7–10 Biochemically, EPP results in the accumulation of protoporphyrin in erythrocytes, plasma, and feces. EPP is generally assumed to be an autosomal dominant hereditary condition,2,11 but it may be inherited, in some cases, in an autosomal recessive fashion.12–14 Four human mutations have been described so far.15–17
Anemias of Chronic Disorders and Nonhemolytic Normochromic, Normocytic Anemias
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Chronic blood loss eventually results in iron deficiency and a microcytic, hypochromic anemia associated with a decreased reticulocyte response. Acute blood loss, in contrast results in a normocytic anemia associated with reticulocytosis (12).
Thalassemia in Asia 2021 Thalassemia in Brunei Darussalam
Published in Hemoglobin, 2022
Seow-Chin Chong, Sofian Metassan, Noorainun Yusof, Roserahayu Idros, Norehan Johari, Ihsan N. Zulkipli, Hazim Ghani, Mei-Ann Lim, Surita Taib, Zen-Huat Lu, Mas R.W. Abdul-Hamid
Thalassemia has been well-researched and documented in neighboring countries such as Malaysia, Thailand, Philippines, Singapore, Indonesia and Vietnam. The combinations of various Hb variants lead to many different thalassemia genotypes [10]. The various thalassemia genotypes express different symptoms and severity. The clinical manifestations may not be observable in some mild cases unless detected during routine blood tests but the severe forms can even result in failure to thrive [11]. These manifestations are variable ranging from mild hypochromic anemia to moderate hematological disease to severe, lifelong, transfusion-dependent anemia with organ malfunctions [12]. Generally, thalassemia can be broadly classified into α- and β-thalassemia (α- and β-thal) or the rare hereditary persistence of fetal Hb (HPHF), depending on the underlying defective globin chain. Clinically, α- and β-thalassemias may occur in homozygous, intermediate or minor genetic forms and may also form interactions with other Hb variants within the same patient [13].
Gastroduodenal Intussusception Due to Gastric Mucosal Prolapse Polyp in a 2-Year-Old Child
Published in Fetal and Pediatric Pathology, 2021
Mostafa Kotb, Marwa Abdelaziz, Yasmine Abdelmeguid, Ahmed Hassan, Nagwa Mashali, Yasser Saad-Eldin
A 2-year-old girl presented to our institution suffering from repeated non bilious vomiting and chest infections. She had a long history of severe anemia, for which she received blood transfusions on several occasions for treatment of anemia. On examination, she looked pale and undernourished. Abdominal examination was unremarkable. She did not show any manifestation of intestinal obstruction at the time of examination. Full blood count revealed microcytic hypochromic anemia with hemoglobin: 6 g/dL (mean:12g/dL), mean corpuscular volume (MCV): 69fl (range: 73.5–84.7 fl), mean corpuscular hemoglobin (MCH): 21 pg (range: 23.1–28.2 pg), mean corpuscular hemoglobin concentration (MCHC): 317 g/L (range: 320–355 g/L) and stool analysis was positive for occult blood. Upper GI series revealed a large filling defect in the second and third parts of the duodenum, indenting the related pyloric antrum (Figure 1). Ultrasound scan showed the typical multilayered target appearance of an intussuscepting lesion.
Regulatory Mutation Study in Cases with Unsolved Hypochromic Microcytic Anemia and α-Major Regulatory Element Haplotype Analysis in Iran
Published in Hemoglobin, 2021
Sara Alimohammadi-Bidhendi, Sarah Azadmehr, Masoumeh Razipour, Sirous Zeinali, Maryam Eslami, Elham Davoudi-Dehaghani
So far, changes in the noncoding regulatory regions such as promoter have been reported in some cases of α-thal [14]. Studies have shown that in addition to the promoter, a highly conserved α-major regulatory element (α-MRE, also known as multi-species conserved sequence 2 or MCS-R2), that lies 40 kb upstream of the α-globin locus [which is why it is also called hypersensitive-40 (HS-40)] is essential for α-globin gene expression [15]. Studies have shown that a regulatory single-nucleotide polymorphism (SNP) (CR062116) ∼6 kb upstream of the HBM gene and an SNP in the NPRL3 gene (rs7203560) can also decrease the expression of α-globin genes [13,16–18]. Despite research conducted on this subject, the cause of microcytic hypochromic anemia still remains unknown in a few cases. Therefore, it seems that more research is needed in this area.