Alpha-thalassemia

An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration.


Total: 18

                       


(per page)
PMID (PMCID)
22042285
 FEMALE Infant, Newborn
In Utero diagnosis and management of a fetus with homozygous alpha-Thalassemia in the second trimester: a case report and literature review.
Dwinnell SJ, Coad S, Butler B, Albersheim S, Wadsworth LD, Wu JK, Delisle MF.
J Pediatr Hematol Oncol. 2011;33(8):e358-60.
Alpha thalassemia with the absence of 4 945-globin genes leads to fetal hydrops and fetal death from anemia.
21302404
 FEMALE
Middle cerebral artery peak systolic velocity in fetuses with homozygous alpha-thalassemia-1: case series.
Raungrongmorakot K, Chaemsaithong P.
J Med Assoc Thai. 2010;93 Suppl 2:S114-7.
The results obtained from cordocentesis confirmed fetal anemia and homozygous alpha-thalassemia-1 in all cases.
21302404
 FEMALE
Middle cerebral artery peak systolic velocity in fetuses with homozygous alpha-thalassemia-1: case series.
Raungrongmorakot K, Chaemsaithong P.
J Med Assoc Thai. 2010;93 Suppl 2:S114-7.
Peak systolic velocity of fetal middle cerebral artery can predict anemia in fetus affected with homozygous alpha-thalassemia-1 disease.
17412572
 MIXED_SAMPLE Infant
[Failure to thrive and psychomotor regression revealing vitamin B12 deficiency in 3 infants].
Mathey C, Di Marco JN, Poujol A, Cournelle MA, Brevaut V, Livet MO, Chabrol B, Michel G.
Arch Pediatr. 2007;14(5):467-71.
Blood cell count showed a macrocytosis without anemia (case 2-3) and a severe microcytic anemia for the first case caused by a mild alpha-thalassemia, with megaloblastic bone marrow.
17933262
 MALE Adult
[Rapid development of anemia in a HIV-positive patient with alpha-thalassemia after zidovudine therapy].
Altinbas A, Ozkaya G, Buyukasik Y, Unal S.
Mikrobiyol Bul. 2007;41(3):473-6.
It was thought that the presence of alpha-thalassemia co-morbidity has facilitated the development of anti-retroviral-induced anemia in this patient.
17933262
 MALE Adult
[Rapid development of anemia in a HIV-positive patient with alpha-thalassemia after zidovudine therapy].
Altinbas A, Ozkaya G, Buyukasik Y, Unal S.
Mikrobiyol Bul. 2007;41(3):473-6.
[Rapid development of anemia in a HIV-positive patient with alpha-thalassemia after zidovudine therapy].
15481894
 MIXED_SAMPLE Adult
A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha2-globin gene (GAG-->TAG) in a Tunisian family.
Siala H, Fattoum S, Messaoud T, Ouali F, Gerard N, Krishnamoorthy R.
Hemoglobin. 2004;28(3):249-54.
Herein we describe a novel alpha-thalassemia (thal) point mutation in the alpha2-globin gene, found in a 3-year-old Tunisian girl who had Hb Bart's (gamma4) at birth, later on presenting with moderate anemia, microcytosis and hypochromia.
15476164
 MALE Adult
[Alpha 2 codon 30 deletion (deltaGAG) causing non-deletional hemoglobin H disease in Guangxi province].
Chen P, Li SQ, Wu H.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004;21(5):435-9.
This unusual case had no anemia, but had higher level of Hb H and Hb Bart's when compared to those non-deletional Hb H disease cases such as Hb CS-H, HbQS-H and alpha2 codon 31 mutation combined with SEA alpha-thalassemia-1 previously reported in mainland China.
12132045
 MALE
Circulating hematopoietic progenitor cells in a fetus with alpha thalassemia: comparison with the cells circulating in normal and non-thalassemic anemia fetuses and implications for in utero transplantations.
Migliaccio AR, Migliaccio G, Di Baldassarre A, Eddleman K.
Bone Marrow Transplant. 2002;30(2):75-80.
Circulating hematopoietic progenitor cells in a fetus with alpha thalassemia: comparison with the cells circulating in normal and non-thalassemic anemia fetuses and implications for in utero transplantations.
11791870
 MIXED_SAMPLE Infant, Newborn
Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1.
McBride KL, Snow K, Kubik KS, Fairbanks VF, Hoyer JD, Fairweather RB, Chaffee S, Edwards WH.
Hemoglobin. 2001;25(4):375-82.
Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1.
11042028
 MALE Child
Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies.
Traeger-Synodinos J, Papassotiriou I, Metaxotou-Mavrommati A, Vrettou C, Stamoulakatou A, Kanavakis E.
Blood Cells Mol Dis. 2000;26(4):276-84.
The deletion of proline at alpha37(C2) is predicted to result in severe instability of the variant hemoglobin, which on interaction with a synthesis-deficient alpha-thalassemia mutation causes a relatively severe dyserythropoietic anemia, representing an alternative phenotype associated with highly unstable alpha-chain variants.
9255612
 FEMALE Adult
Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with anemia, microcytosis, and alpha-thalassemia-2 (-3.7 Kb).
Merritt D, Jones RT, Head C, Thibodeau SN, Fairbanks VF, Steinberg MH, Coleman MB, Rodgers GP.
Hemoglobin. 1997;21(4):331-44.
Hb Seal Rock [(alpha 2)142 term-->Glu, codon 142 TAA-->GAA]: an extended alpha chain variant associated with anemia, microcytosis, and alpha-thalassemia-2 (-3.7 Kb).
9028451
 MIXED_SAMPLE Infant, Newborn
Limb defects in homozygous alpha-thalassemia: report of three cases.
Chitayat D, Silver MM, O'Brien K, Wyatt P, Waye JS, Chiu DH, Babul R, Thomas M.
Am J Med Genet. 1997;68(2):162-7.
Homozygosity for the South-Asian alpha-thalassemia (--SEA/) deletion is a serious hematological condition that results, in most cases, in intrauterine or postnatal death due to anemia and severe hypoxia of prenatal onset.
8237999
 MIXED_SAMPLE Child
Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients.
Curuk MA, Dimovski AJ, Baysal E, Gu LH, Kutlar F, Molchanova TP, Webber BB, Altay C, Gurgey A, Huisman TH.
Am J Hematol. 1993;44(4):270-5.
This variant was present in association with a common alpha-thalassemia-1 deletion [-(alpha)20.5 kb] in two adults and caused a severe type of Hb H disease with anemia, low levels of Hb A2, increased zeta chain, and Hb Bart's.
6882779
 MIXED_SAMPLE
Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2.
Moo-Penn WF, Baine RM, Jue DL, Johnson MH, McGuffey JE, Benson JM.
Biochim Biophys Acta. 1983;747(1-2):65-70.
The combination of Hb Evanston with alpha-thalassemia-2 produced anemia in this black family.
7351073
 FEMALE Adult
Globin synthesis studies in a person heterozygous for alpha-thalassemia-2, Hb S and Hb G Philadelphia.
Ballas SK, Walker BK, Atwater J.
Clin Chim Acta. 1980;100(1):1-6.
A 21-year-old American black female with mild anemia was found to be triply heterozygous for alpha-thalassemia-2, hemoglobin S and hemoglobin G Philadelphia.
914640
 MALE Adult
Hemoglobin S-O Arab-alpha-thalassemia: globin biosynthesis and clinical picture.
Ballas SK, Atwater J, Burka ER.
Hemoglobin. 1977;1(7):651-62.
A 22 year old American negro with mild anemia was found to be triply heterozygous for hemoglobin S, hemoglobin O Arab and alpha thalassemia.
1272638
 FEMALE Child
Sickle cell syndromes. I. Hemoglobin SC-alpha-thalassemia.
Honig GR, Gunay U, Mason RG, Vida LN, Ferenc C.
Pediatr Res. 1976;10(6):613-20.
The child with HbSC-alpha-thalassemia demonstrated more severe anemia and a more hemolytic picture than is typical of HbSC disease.