Double heterozygosity for hemoglobin C and beta-thalassemia dominant: A rare case of thalassemia intermedia

نویسندگان
چکیده

منابع مشابه

Double 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 کامل

A Rare Case of Co-Inheritance of Beta Thalassemia Intermedia and Coagulation FVII Deficiency

We present a 34-year-old man with combination of beta thalassemia intermedia and coagulation factor VII deficiency who was presented with pallor and irregular nose bleeding episodes. On physical examination, he had splenomegaly and yellow sclera. Pallor and splenomegaly could be reminder of thalassemic syndromes or hemoglobinopathies including thalassemia intermedia. Association with unusual bl...

متن کامل

Thalassemia intermedia in HbH-CS disease with compound heterozygosity for beta-thalassemia: challenges in hemoglobin analysis and clinical diagnosis.

Co-inheritance of alpha-thalassemia with homozygosity or compound heterozygosity for beta-thalassemia may ameliorate beta-thalassemia major. A wide range of clinical phenotypes is produced depending on the number of alpha-thalassemia alleles (-alpha/alphaalpha --/alphaalpha, --/-alpha). The co-inheritance of beta-thalassemia with alpha-thalassemia with a single gene deletion (-alpha/alphaalpha)...

متن کامل

Delta 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 کامل

Thalassemia 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 ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Hematology Reports

سال: 2018

ISSN: 2038-8330,2038-8322

DOI: 10.4081/hr.2017.7447