• S/Beta (+) thal,

  • Bart's newborn, 0.15

  • H Disease and HbS, 0.15

  • H disease, 0.15

  • H disease/Beta thal, 0.20

  • E + Constant Spring + Bart's, 0.20

  • Delta Beta thal/Beta (o) thal, 0.50

  • H disease/Beta thal, 0.58

  • Providence, 0.79

  • H disease, 1.01

  • Delta Beta thal, 1.11

  • S homoz transfused, 1.12

  • S/Beta (+) thal, 1.12

  • H disease, 1.13

  • HPFH, 1.14

  • Lisbon, 1.14

  • S+HPFH, 1.14

  • Valletta/Lepore, 1.15

  • D-Punjab/Beta thal, 1.16

  • S/HPFH, 1.16

  • S homoz transfused, 1.16

  • C/Delta-Beta thal, 1.16

  • J Iran, 1.16

  • Delta Beta thal, 1.16

  • F Malta I + Valletta, 1.17

  • S/HPFH, 1.17

  • S/Beta thal, 1.17

  • HPFH, 1.17

  • Delta beta thal, 1.17

  • Beta (o) thal/HPFH, 1.17

  • S homoz newborn, 1.19

  • J-Sardegna, 1.19

  • Beta thal/E disease, 1.19

  • Beta thal major, 1.21

  • Normal newborn cord blood, 1.22

  • Beta thal homoz + H, 1.22

  • J-Sardegna, 1.24

  • K-Woolwich, 1.29

  • Hope, 1.35

  • Camden, 1.36

  • Singapore, 1.37

  • Hope, 1.40

  • I-Texas, 1.40

  • Le Lamentin, 1.49

  • Providence, 1.49

  • Hopkins II, 1.51

  • Le Lamentin, 1.54

  • Hopkins-II, 1.60

  • Nunobiki, 1.60

  • J-Oxford, 1.63

  • J-Meerut, 1.65

  • J-Broussais, 1.65

  • Le Lamentin, 1.66

  • Santa Clara, 1.66

  • Lisbon, 1.67

  • Shelby, 1.69

  • Malmö, 1.70

  • J-Paris I, 1.71

  • Austin, 1.75

  • J-Mexico, 1.82

  • Lyon-Bron, 1.82

  • J-Baltimore, 1.83

  • St Claude, 1.88

  • J-Toronto, 1.88

  • Old Dominion Burton-opon-Trent, 1.88

  • Fannin-Lubbock II, 1.91

  • J-Tongariki, 1.91

  • J-Bangkok, 1.92

  • K-Ibadan, 2.00

  • J-Bangkok, 2.02

  • Beta thal homoz, 2.13

  • Hikari, 2.13

  • Acharnes, 2.20

  • Milledgeville, 2.26

  • Athens-Georgia, 2.26

  • San Diego, 2.31

  • HbS/La Desirade, 2.38

  • North Manchester, 2.39

  • Valletta, 2.39

  • Tacoma II, 2.41

  • Randwick, 2.41

  • Roanne, 2.43

  • S/Beta (+) thal, 2.47

  • Bicêtre, 2.50

  • Ambroise Paré, 2.50

  • Groene-Hart, 2.50

  • Chicago, 2.50

  • Rainier, 2.51

  • Yaoundé, 2.55

  • Hamilton, 2.55

  • Saint Jacques, 2.56

  • Brem-sur-Mer, 2.58

  • Sinai-Baltimore, 2.58

  • Tyne, 2.61

  • Valletta/Lepore, 2.65

  • Randwick/Beta thal, 2.66

  • Aubagne, 2.80

  • Gerland, 2.85

  • Beta thal major, 3.01

  • Lombard, 3.15

  • Abruzzo, 3.39

  • HbE Heterozygote, 3.41

  • Fort Worth, 3.45

  • G -Coushatta homoz, 3.48

  • Lepore, 3.50

  • Valletta/Lepore, 3.52

  • alpha-thal 2 3.7, 3.52

  • D-Iran, 3.54

  • Lepore-Boston-Washington, 3.55

  • D-Iran, 3.56

  • Toulon, 3.57

  • D-Ouled Rabah, 3.57

  • Delta Beta thal, 3.59

  • alpha chain triplication, 3.60

  • Beta (o) thal homoz FSC8 transfused, 3.60

  • A2', 3.60

  • Beta thal trait, 3.61

  • Roma, 3.61

  • H disease, 3.61

  • alpha-thal 2, 3.62

  • alpha-thal 1 3.7 homoz, 3.62

  • C/Beta thal, 3.62

  • Beta thal trait, 3.63

  • C/Beta (o) thal, 3.63

  • H disease/Beta thal, 3.63

  • A2 Amsterdam / Beta zero, 3.63

  • Beta thal minor, 3.63

  • Hb E Homozygote, 3.64

  • Beta thal trait (4 bp deletion), 3.64

  • Beta thalassaemia carrier Cd 39, 3.64

  • E homoz, 3.64

  • H disease, 3.65

  • Beta (o) thal/HPFH, 3.65

  • E, 3.65

  • E + Constant Spring + Bart's, 3.65

  • alpha-thal 1 homoz (3.7 del), 3.65

  • E heteroz, 3.65

  • Delta Beta thal/Beta (o) thal, 3.65

  • Beta thal homoz + H, 3.66

  • Beta thal trait, 3.66

  • Siirt + alpha chain triplication, 3.66

  • Shelby, 3.66

  • Beta thal homoz, 3.67

  • S/Beta (o) thal, 3.67

  • Beta (+) thal homoz, 3.67

  • Beta thal/E disease with blood transfusion, 3.67

  • E + Constant Spring, 3.68

  • E + alpha-thal 1 (SEA type), 3.68

  • Codon 58 (+C) delta0, 3.68

  • A2 Deventer, 3.68

  • Beta thal/E disease, 3.69

  • E / Beta and alpha zero , 3.74

  • Maputo, 3.74

  • G Copenhagen, 3.75

  • G Honolulu, 3.80

  • Korle Bu, 3.89

  • Dhofar, 3.92

  • G-Norfolk, 3.93

  • D-Ibadan, 3.94

  • Dunn, 4.01

  • D-Punjab/S, 4.06

  • D-Punjab/Beta thal, 4.08

  • D-Punjab, 4.08

  • S + G-Philadelphia, 4.10

  • G-Philadelphia, 4.12

  • G-Philadelphia, 4.13

  • HbD Heterozygote, 4.13

  • D-Punjab, 4.14

  • G-Waimanalo, 4.24

  • Stanleyville II, 4.31

  • Russ, 4.32

  • Aïchi, 4.33

  • HbS/La Desirade, 4.34

  • S homoz newborn, 4.36

  • S + G-Philadelphia, 4.38

  • Sickle Cell Trait, 4.40

  • S + HPFH, 4.41

  • D-Punjab/S, 4.42

  • Evanston, 4.42

  • S homoz transfused, 4.43

  • S homoz transfused, 4.43

  • S/Beta (o) thal, 4.43

  • S/Beta (+) thal, 4.44

  • S + alpha-thal 2 (-3.7 del), 4.44

  • S/C, 4.45

  • S/HPFH, 4.45

  • S + alpha-thal 2, 4.45

  • S homoz, 4.45

  • S/HPFH, 4.46

  • S/Beta thal, 4.46

  • S + alpha-thal 2, 4.46

  • S heteroz + alpha-thal 2, 4.46

  • S + Montgomery, 4.46

  • S homoz transfused, 4.47

  • HbS Heterozygote, 4.48

  • A2' + thal, 4.55

  • St Luke’s and Beta-thalassaemia, 4.55

  • A2', 4.56

  • St. Luke's, 4.58

  • G-San Jose, 4.60

  • G-San Jose, 4.60

  • St Luke’s, 4.61

  • E + Constant Spring + Bart's, 4.70

  • Setif, 4.74

  • Seal Rock, 4.75

  • Seal Rock, 4.77

  • Sunshine Seth, 4.79

  • O-Padova, 4.79

  • Q-India, 4.79

  • Hasharon, 4.82

  • S + G-Philadelphia, 4.82

  • Hasharon/alpha-thal 2 (3.7 del ), 4.82

  • Hasharon, 4.82

  • Shelby, 4.83

  • Q-Iran, 4.85

  • C/O-Arab, 4.90

  • O-Arab, 4.91

  • Chad, 4.96

  • S + Montgomery, 4.98

  • M-Saskatoon, 5.00

  • C heteroz + alpha thal 2, 5.11

  • C homoz, 5.13

  • HbC Homozygote, 5.13

  • M Hyde Park, 5.15

  • C/O-Arab, 5.15

  • C/Delta-Beta thal, 5.15

  • C/Beta (o) thal, 5.15

  • C/Beta thal, 5.16

  • C heteroz, 5.17

  • S/C, 5.17

    
1 / 230
Double-click for more information
select
select
select
select
select

Case report

Print chromatogram & case report here.

   Library of Variants - Laboratory Records

______________________________________________________________________________________________________

Compound heterozygous hemoglobin S and b+ thalassemia

Variation data:  Sickle beta(+) thalassemia. 6(Glu>Val), IVS1-110

Case commentary:

Female, 33 years old, Sβ+ treated by hydroxycarbamide (hydroxyurea).

Chromatography:

The test was performed on Bio-Rad  VARIANT II.

F=24% RT 1.13

A0=8.8% RT 2.46

A2= 5.1% RT 3.60

S window= 62.5% RT 4.33

Other methods:

NA

Hematology and Clinical Presentation:

Sickle cell disease.  

CBC data:

RBC 2.45 x 1012/L

Hb 7.0 g/dL

HCT 22.6%

MCV 92.4fL

MCH 28.4pg

MCHC 30.8 g/dL

RDW 23.1%

Ethnicity: Arab

Other studies: sample identification was performed on 1991 by Allele specific oligo probe hybridization for IVS1-110 mutation and by PCR and DDeI restriction enzyme for Hb S mutation.   

External links:  NA

Case and Comments provided by: Sari Peretz, Hematology Laboratory, Emek medical centre, Afula, Israel.

References: NA

Disclaimer: The chromatogram and data in this case report are actual laboratory findings. Bio-Rad Laboratories, Inc. does not validate or confirm the sample data included in this database. All information contained herein is for informational use only and is not meant as a definitive identification of the hemoglobin genotype nor for diagnostic purposes. We welcome your comments at  hemoglobins@bio-rad.com