Introduction <p>Hemoglobin D is an inherited variant of Hemoglobin A, producing Hemoglobin D instead of Hemoglobin A. It is widespread worldwide, particularly in northwest India, particularly Punjab and Gujarat. Both heterozygous and homozygous HbD-Punjab traits are usually asymptomatic but can cause pregnancy-related anemia, making management challenging. This is a case of HbD diagnosis in pregnancy was successfully managed with excellent maternal and fetal outcomes.</p> Case Description <p>A patient from Eastern Haryana, G3P1L1A1, was diagnosed with anemia at 13&#xa0;weeks gestation. Her first pregnancy was uneventful, leading to a cesarean section. Her second pregnancy resulted in a spontaneous abortion. The patient's antenatal profile showed a hemoglobin of 6.9&#xa0;g/dl. Ultrasonography showed mild splenomegaly. The patient was diagnosed with HbD trait status and was advised about the risks of the baby being homozygous. The patient was started on oral iron therapy, which increased her hemoglobin to 10.6&#xa0;mg/dl. At 40 + 3&#xa0;weeks, she was admitted for elective LSCS. She was discharged on day 4 of LSCS with postpartum contraceptive counseling.</p> Discussion <p>Hb SD Punjab disease, a double heterozygous S and D Punjab disorder, is a benign condition with a 25% chance of a child having the disorder. It can be heterozygous, homozygous or combined with HbS or b-thalassemia. HbD is characterized by mild hemolytic anemia and non-progressive splenomegaly. Both HbDD and HbD traits are not clinically significant and usually require no treatment. There are no long-term implications or restrictions on contraception methods.</p> Conclusion <p>Population-based screening studies can accurately estimate HbD gene prevalence, while premarital screening and counseling promote successful reproductive life and reduce newborns affected by the gene.</p>

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HbD Punjab: A Rare Hemoglobinopathy in Pregnancy

  • Komal Chavan,
  • Subhani Mahapatra,
  • Nandan Purandare,
  • Himanshi Rawat

摘要

Introduction

Hemoglobin D is an inherited variant of Hemoglobin A, producing Hemoglobin D instead of Hemoglobin A. It is widespread worldwide, particularly in northwest India, particularly Punjab and Gujarat. Both heterozygous and homozygous HbD-Punjab traits are usually asymptomatic but can cause pregnancy-related anemia, making management challenging. This is a case of HbD diagnosis in pregnancy was successfully managed with excellent maternal and fetal outcomes.

Case Description

A patient from Eastern Haryana, G3P1L1A1, was diagnosed with anemia at 13 weeks gestation. Her first pregnancy was uneventful, leading to a cesarean section. Her second pregnancy resulted in a spontaneous abortion. The patient's antenatal profile showed a hemoglobin of 6.9 g/dl. Ultrasonography showed mild splenomegaly. The patient was diagnosed with HbD trait status and was advised about the risks of the baby being homozygous. The patient was started on oral iron therapy, which increased her hemoglobin to 10.6 mg/dl. At 40 + 3 weeks, she was admitted for elective LSCS. She was discharged on day 4 of LSCS with postpartum contraceptive counseling.

Discussion

Hb SD Punjab disease, a double heterozygous S and D Punjab disorder, is a benign condition with a 25% chance of a child having the disorder. It can be heterozygous, homozygous or combined with HbS or b-thalassemia. HbD is characterized by mild hemolytic anemia and non-progressive splenomegaly. Both HbDD and HbD traits are not clinically significant and usually require no treatment. There are no long-term implications or restrictions on contraception methods.

Conclusion

Population-based screening studies can accurately estimate HbD gene prevalence, while premarital screening and counseling promote successful reproductive life and reduce newborns affected by the gene.