Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta+-thalassemia intermedia associated with delta degree- thalassemia
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چکیده
منابع مشابه
Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin
Abstract Background Delta beta (δβ) thalassemia is an unusual variant of thalassemia with elevated level of fetal hemoglobin (HbF). Homozygous patients of this disorder, unlike β-thalassemia, show mild anemia. Only few cases of δβ-thalassemia have been reported from India in the available indexed English literature. Case presentation A four-year old male child was evaluated for recent-onset...
متن کاملDelta beta thalassemia: a rare hemoglobin variant
Abbreviations: CBC, complete blood count; Hb, hemoglobin; HPLC, high-performance liquid chromatography. 2011;26:162-5. 7. Cho HY, Lee BS, Moon KC, Ha IS, Cheong HI, Choi Y. Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate. Pediatr Nephrol 2007;22:874-80. 8. Frémeaux-Bacchi V, Miller EC, Liszewski MK, et al. Mutations in complement C3 predispose to developm...
متن کاملBeta-thalassemia intermedia associated with moyamoya syndrome.
Moyamoya syndrome (MMS) is a progressive disorder. We report a 19-year-old boy with beta-thalassemia who presented with a left hemiparesis. Brain MRI showed old middle cerebral artery and left frontal subcortical white matter infarcts. Brain magnetic resonance angiography and digital subtraction angiography revealed occlusion of the bilateral internal carotid arteries with a rich network of bas...
متن کاملDouble heterozygocity for hemoglobin C and beta thalassemia dominant: A rare case of thalassemia intermedia
Beta thalassemia dominant results from mutations in the β globin chain gene resulting in the production of elongated, highly unstable beta globin chains. Several such mutations have been described and in a heterozygous state they may confer a phenotype more severe than that of β thalassemia trait and lead to a clinical syndrome of thalassemia intermedia and its associated complications such as ...
متن کاملThalassemia intermedia resulting from a mild beta-thalassemia mutation.
We investigated the molecular basis for a mild phenotype in a group of patients with beta(+) thalassemia originating from Northern Sardinia by definition of the beta-thalassemia mutation, alpha-globin mapping and beta-globin haplotype determination. In nine patients, we detected the compound heterozygous state for the -87 promoter mutation and the codon 39 nonsense mutation; in one patient, we ...
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ژورنال
عنوان ژورنال: Blood
سال: 1986
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v67.4.957.957